AnatomyOrganismsDiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesHealth Care
Craniofacial AbnormalitiesFacial BonesSkullMacroglossiaEctromeliaPalateAbnormalities, MultipleBranchial RegionCleft PalateNeural CrestSyndromeZebrafishGene Expression Regulation, DevelopmentalPhenotypeMaxillofacial DevelopmentCraniofacial DysostosisCephalometryFaceSkull BaseMandibleMandibulofacial DysostosisFrontal BoneJawHeadTooth AbnormalitiesCleft Lip
Craniofacial Abnormalities
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Facial Bones
The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)
Skull
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
Macroglossia
The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
Ectromelia
Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.
Palate
The structure that forms the roof of the mouth. It consists of the anterior hard palate (PALATE, HARD) and the posterior soft palate (PALATE, SOFT).
Abnormalities, Multiple
Branchial Region
A region, of SOMITE development period, that contains a number of paired arches, each with a mesodermal core lined by ectoderm and endoderm on the two sides. In lower aquatic vertebrates, branchial arches develop into GILLS. In higher vertebrates, the arches forms outpouchings and develop into structures of the head and neck. Separating the arches are the branchial clefts or grooves.
Cleft Palate
Congenital fissure of the soft and/or hard palate, due to faulty fusion.
Neural Crest
The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.
Syndrome
A characteristic symptom complex.
Zebrafish
An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.
Gene Expression Regulation, Developmental
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Maxillofacial Development
The process of growth and differentiation of the jaws and face.
Craniofacial Dysostosis
Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Cephalometry
The measurement of the dimensions of the HEAD.
Face
The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.
Skull Base
The inferior region of the skull consisting of an internal (cerebral), and an external (basilar) surface.
Mandible
The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth.
Mandibulofacial Dysostosis
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Frontal Bone
The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.
Jaw
Bony structure of the mouth that holds the teeth. It consists of the MANDIBLE and the MAXILLA.
Head
The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs.
Tooth Abnormalities
Congenital absence of or defects in structures of the teeth.
Cleft Lip
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (1/620)

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.  (+info)

2,3,7,8-Tetrachlorodibenzo-p-dioxin alters cardiovascular and craniofacial development and function in sac fry of rainbow trout (Oncorhynchus mykiss). (2/620)

Hallmark signs of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) toxicity in rainbow trout sac fry, are yolk sac edema, hemorrhage, craniofacial malformation, and growth retardation culminating in mortality. Our objective was to determine the role of cardiovascular dysfunction in the development of this toxicity. An embryotoxic TCDD dose (385 pg/g egg) caused a progressive reduction in blood flow in rainbow trout sac fry manifested first and most dramatically in the 1st and 2nd branchial arches and vessels perfusing the lower jaw. Blood flow was reduced later in the infraorbital artery and occipital vein of the head as well as segmental vessels and caudal vein of the trunk. Reduced perfusion occurred last in gill branchial arteries involved with oxygen uptake and the subintestinal vein and vitelline vein involved with nutrient uptake. Although heart rate throughout sac fry development was not affected, heart size at 50 days post-fertilization (dpf) was reduced far more than body weight or length, suggesting that the progressive circulatory failure caused by TCDD is associated with reduced cardiac output. Craniofacial development was arrested near hatch, giving rise to craniofacial malformations in which the jaws and anterior nasal structures were underdeveloped. Unlike the medaka embryo, in which TCDD causes apoptosis in the medial yolk vein, endothelial cell death was not observed in rainbow trout sac fry. These findings suggest a primary role for arrested heart development and reduced perfusion of tissues with blood in the early-life stage toxicity of TCDD in trout.  (+info)

Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects. (3/620)

Smad5 has been implicated as a downstream signal mediator for several bone morphogenetic proteins (BMPs). To understand the in vivo function of Smad5, we generated mice deficient in Smad5 using embryonic stem (ES) cell technology. Homozygous mutant embryos die between E9.5 and E11.5, and display variable phenotypes. Morphological defects are first detected at E8.0 in the developing amnion, gut and heart (the latter defect being similar to BMP-2 knockout mice). At later stages, mutant embryos fail to undergo proper turning, have craniofacial and neural tube abnormalities, and are edematous. In addition, several extraembryonic lesions are observed. After E9.0, the yolk sacs of the mutants contain red blood cells but lack a well-organized vasculature, which is reminiscent of BMP-4, TGF-beta1 and TGF-beta type II receptor knockout mice. In addition, the allantois of many Smad5 mutants is fused to the chorion, but is not well-elongated. A unique feature of the Smad5 mutant embryos is that ectopic vasculogenesis and hematopoiesis is observed in the amnion, likely due to mislocation of allantois tissue. Despite the expression of Smad5 from gastrulation onwards, and in contrast to knockouts of Smad2 and Smad4, Smad5 only becomes essential later in extraembryonic and embryonic development.  (+info)

Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. (4/620)

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.  (+info)

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. (5/620)

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation.  (+info)

The face of Smith-Magenis syndrome: a subjective and objective study. (6/620)

We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of "gestalt" and detailed facial measurement, using previously published methodology, with compilation of Z score pattern profiles. The facial phenotype of SMS is quite distinctive, even in the young child. The overall face shape is broad and square. The brows are heavy, with excessive lateral extension of the eyebrows. The eyes slant upwards and appear close set and deep set. The nose has a depressed root and, in the young child, a scooped bridge. With time, the bridge becomes more ski jump shaped. The height of the nose is markedly reduced while the nasal base is broad and the tip of the nose is full. The shape of the mouth and upper lip are most distinctive. The mouth is wide with full upper and lower lips. The central portion of the upper lip is fleshy and everted with bulky philtral pillars, producing a tented appearance that, in profile, is striking. With age, mandibular growth is greater than average and exceeds that of the maxilla. This leads to increased jaw width and protrusion and marked midface hypoplasia. Craniofacial pattern analysis supports these subjective impressions. After mid-childhood, mandibular dimensions consistently exceed their maxillary counterparts. Craniofacial widths are greater than corresponding depths and heights. Nasal height is reduced while nasal width is increased. There is mild brachycephaly. The most marked age related changes are increased width of the nose and lower face (mandibular width) with reduction in nasal height and midfacial depth.  (+info)

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (7/620)

Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway. CS is characterized by multiple hamartomas and an increased risk of benign and malignant disease of the breast, thyroid and central nervous system, whilst the presence of cancer has not been formally documented in BRR. The partial clinical overlap in these two syndromes is exemplified by the hallmark features of BRR: macrocephaly and multiple lipomas, the latter of which occur in a minority of individuals with CS. Additional features observed in BRR, which may also occur in a minority of CS patients, include Hashimoto's thyroiditis, vascular malformations and mental retardation. Pigmented macules of the glans penis, delayed motor development and neonatal or infant onset are noted only in BRR. In this study, constitutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations. Mutations were identified in 26 of 43 (60%) BRR cases. Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024). Additionally, the presence of lipomas was correlated with the presence of PTEN mutation in BRR patients ( P = 0.028). In contrast to a prior report, no significant difference in mutation status was found in familial versus sporadic cases of BRR ( P = 0.113). Comparisons between BRR and a previously studied group of 37 CS families suggested an increased likelihood of identifying a germline PTEN mutation in families with either CS alone or both CS and BRR when compared with BRR alone ( P = 0.002). Among CS, BRR and BRR/CS overlap families that are PTEN mutation positive, the mutation spectra appear similar. Thus, PTEN mutation-positive CS and BRR may be different presentations of a single syndrome and, hence, both should receive equal attention with respect to cancer surveillance.  (+info)

Differential responses to parathyroid hormone-related protein (PTHrP) deficiency in the various craniofacial cartilages. (8/620)

PTHrP null mutant mice exhibit skeletal abnormalities both in the craniofacial region and limbs. In the growth plate cartilage of the null mutant, a diminished number of proliferating chondrocytes and accelerated chondrocytic differentiation are observed. In order to examine the effect of PTHrP deficiency on the craniofacial morphology and highlight the differential feature of the composing cartilages, we examined the various cartilages in the craniofacial region of neonatal PTHrP deficient mice. The major part of the cartilaginous anterior cranial base appeared to be normal in the homozygous PTHrP deficient mice. However, acceleration of chondrocytic differentiation and endochondral bone formation was observed in the posterior part of the anterior cranial base and in the cranial base synchondroses. Ectopic bone formation was observed in the soft tissue-running mid-portion of the Meckel's cartilage, where the cartilage degenerates and converts to ligament in the course of normal development. The zonal structure of the mandibular condylar cartilage was scarcely affected, but the whole condyle was reduced in size. These results suggest the effect of PTHrP deficiency varies widely between the craniofacial cartilages, according to the differential features of each cartilage.  (+info)

Ahsa1/Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of HDR | Disease Models & MechanismsAhsa1/Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of HDR | Disease Models & Mechanisms
Most human birth defects are highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability. Mutation of the transcription factor GATA3 in humans causes the highly variable Hypoparathyroidism, sensorineural Deafness and Renal dysplasia (HDR) syndrome. Although named for a triad of defects patients with HDR can also exhibit craniofacial defects. Through a forward genetic screen for craniofacial mutants, we isolated a zebrafish mutant in which the first cysteine of the second zinc finger of Gata3 is mutated. Because mutation of the homolgous cysteine causes HDR in humans, these zebrafish mutants will be a rapid and effective animal model for understanding the role of gata3 in the HDR disease spectrum. We demonstrate that, unexpectedly, the chaperone proteins Ahsa1 and Hsp90 promote severe craniofacial phenotypes in our zebrafish model of HDR Syndrome. The strengths of the zebrafish system, including rapid development, genetic tractability and ...
http://dmm.biologists.org/content/early/2013/05/29/dmm.011965
Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlusCraniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus
Craniofacial abnormalities (or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more.
https://medlineplus.gov/craniofacialabnormalities.html
News from the GMC
Mutant mice mimic the craniofacial phenotypes of jaw dysplasia, micrognathia, dysplastic temporomandibular joints, auricular dysmorphism, and missing of the squamosal zygomatic process. Mutant EdnraY129F mice also exhibit hearing impairment in line with strong abnormalities of the ossicles and further, reduction of some lung volumetric parameters. In general, heterozygous and homozygous mice demonstrated inter-individual diversity of expression of the craniofacial phenotypes. Many of these phenotypes were also observed or described for MFDA patients. Thus the mutant EdnraY129F mice seem to be a valuable viable model for complex human syndromes of the first and second pharyngeal arches, the understanding of the human MFDA syndrome and for the development of therapeutic interventions. Sibylle Sabrautzki, Michael A. Sandholzer, Bettina Lorenz-Depiereux, Robert Brommage, Gerhard Przemeck, Ingrid L. Vargas Panesso, Alexandra Vernaleken, Lillian Garrett, Katharina Baron, Ali O. Yildirim, Jan Rozman, ...
https://www.mouseclinic.de/news/news-from-the-gmc/article/19172/index.html
The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2 | DevelopmentThe cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2 | Development
The chick is a classic embryological system that has been meticulously documented and described (Hamburger and Hamilton, 1951). Several institutions have bred and maintained mutant avian lines that have lent a significant amount of insight into numerous developmental processes (Robb et al., 2011). Some of the most well-studied avian genetic developmental mutants have been the talpids (talpid, talpid2 and talpid3): three independently discovered, naturally occurring, autosomal recessive, lethal mutants characterized by pre-axial polydactyly, craniofacial anomalies and a host of other developmental defects (Abbott et al., 1959; Ede and Kelly, 1964a,b; MacCabe and Abbott, 1974). Although talpid became extinct, the study of the genetic and molecular etiology of the talpid2 and talpid3 phenotypes continues.. talpid2 and talpid3 have similar limb phenotypes, yet the craniofacial phenotypes are distinct. talpid3 has severe hypotelorism, a hypoplastic frontonasal mass superior to the eyes, medially ...
http://dev.biologists.org/content/141/15/3003
Pak1ip1 Loss-of-Function Leads to Cell Cycle Arrest, Loss of Neural Crest Cells, and Craniofacial Abnormalities<...
TY - JOUR. T1 - Pak1ip1 Loss-of-Function Leads to Cell Cycle Arrest, Loss of Neural Crest Cells, and Craniofacial Abnormalities. AU - Panoutsopoulos, Alexios A.. AU - De Crescenzo, Angelo Harlan. AU - Lee, Albert. AU - Lu, Amelia Mac Kenzie. AU - Ross, Adam P.. AU - Borodinsky, Laura N.. AU - Marcucio, Ralph. AU - Trainor, Paul A.. AU - Zarbalis, Konstantinos. N1 - Funding Information: We thank Kirsten Lois Ner and Michael Podesta, for technical assistance. We also thank Dr. Athena Soulika for advice and support with flow cytometry. Funding. This study was supported by Shriners Hospitals for Children and NIH grant R01DE022830 to KZ, PT, and RM. Research in the Trainor laboratory is supported by the Stowers Institute for Medical Research.. PY - 2020/9/1. Y1 - 2020/9/1. N2 - Neural crest cells (NCCs) comprise a transient progenitor cell population of neuroepithelial origin that contributes to a variety of cell types throughout vertebrate embryos including most mesenchymal cells of the cranial and ...
https://ucdavis.pure.elsevier.com/en/publications/pak1ip1-loss-of-function-leads-to-cell-cycle-arrest-loss-of-neura
Fundamentals of Craniofacial Malformations - Vol. 1, Disease and Diagnostics | Ulrich Meyer | SpringerFundamentals of Craniofacial Malformations - Vol. 1, Disease and Diagnostics | Ulrich Meyer | Springer
This book, the first in an interdisciplinary three-volume series on craniofacial malformations, examines the basis of craniofacial malformations.
https://www.springer.com/gb/book/9783030460235
3D Ultrasound of Craniofacial Abnormalities Ultrasound Video Lecture by Theodore J. Dubinksy, MD, FSRU | SonoWorld
The speaker discusses clinical applications of 3D imaging in craniofacial abnormalities. Normal and abnormal palate, Embryo rendered, Chiari II malformation, 3D images used in screening, Fetal brain, Fetal face, Fetal spine, Fetal extremities, Abnormalities.
https://sonoworld.com/LectureDetails/3D_Ultrasound_of_Craniofacial_Abnormalities.aspx?Id=3792&Sequence=1
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). -...
Polycystin 2 (Pkd2), which belongs to the transient receptor potential family, plays a critical role in development. Pkd2 is mainly localized in the primary cilia, which also function as mechanoreceptors in many cells that influence multiple biological processes including Ca(2+) influx, chemical activity and signalling pathways. Mutations in many cilia proteins result in craniofacial abnormalities. Orofacial tissues constantly receive mechanical forces and are known to develop and grow through intricate signalling pathways. Here we investigate the role of Pkd2, whose role remains unclear in craniofacial development and growth. In order to determine the role of Pkd2 in craniofacial development, we located expression in craniofacial tissues and analysed mice with conditional deletion of Pkd2 in neural crest-derived cells, using Wnt1Cre mice. Pkd2 mutants showed many signs of mechanical trauma such as fractured molar roots, distorted incisors, alveolar bone loss and compressed temporomandibular joints, in
https://www.obs-gyn.ox.ac.uk/publications/541202
Ontology of Craniofacial Development and Malformation | NCBO BioPortal
The Ontology of Craniofacial Development and Malformation (OCDM) is a mechanism for representing knowledge about craniofacial development and malformation, and for using that knowledge to facilitate integrating craniofacial data obtained via multiple techniques from multiple labs and at multiple levels of granularity. The OCDM is a project of the NIDCR-sponsored FaceBase Consortium, whose goal is to promote and enable research into the genetic and epigenetic causes of specific craniofacial abnormalities through the provision of publicly accessible, integrated craniofacial data ...
http://obo-foundry.bioportal.bioontology.org/ontologies/OCDM
Acromelic Frontonasal Dysostosis
13:Verloes et al. (1992)} described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet ...
http://diseaseinfosearch.org/Acromelic+Frontonasal+Dysostosis/163
Gene Expression Literature DetailGene Expression Literature Detail
J:173627 Billington CJ Jr, Ng B, Forsman C, Schmidt B, Bagchi A, Symer DE, Schotta G, Gopalakrishnan R, Sarver AL, Petryk A, The molecular and cellular basis of variable craniofacial phenotypes and their genetic rescue in Twisted gastrulation mutant mice. Dev Biol. 2011 Jul 1;355(1):21-31 ...
http://www.informatics.jax.org/gxdlit/key/130594
Indian Society of Cleft Lip, Palate And Craniofacial Anomalies
Our Mission is dedicated to improve the lives of those suffering from Cleft-Lip, Palate and Craniofacial Anomalies throughout the ...
http://isclpca.org/WebPages/forgotpassword.aspx
03-P023 Gsk-3β regulates Wnt and Hh during craniofacial development - Semantic Scholar03-P023 Gsk-3β regulates Wnt and Hh during craniofacial development - Semantic Scholar
Orbital cartilage encircles the eye giving strength and support to the neural retina. It is derived from cranial neural crest cells (NCCs), cells that can generate a number of cell types including neurons, glia, and melanocytes. Uniquely in the head, NCCs also make skeletal derivatives that form the majority of the craniofacial skeleton. Differentiation of NCCs into cartilage requires inductive interactions between NCCs and the local environment. The nature of these interactions is largely unknown. We hypothesise that formation of the eye socket requires interactions between the eye and the NCCs during early development. This is supported by evidence in animals and humans where lack of eyes (anophthalmia) or formation of small eyes (microphthalmia) result in craniofacial abnormalities. Orbital cartilage is found in the majority of vertebrates but the ability to induce it has been lost to mammals. A comparison of chick and mouse should help us determine which tissues and molecules are necessary for this
https://www.semanticscholar.org/paper/03-P023-Gsk-3%CE%B2-regulates-Wnt-and-Hh-during-craniof-Rogers-Liu/e311d3c8bae0f1018bb5df34bfbb958b21179ac3
Mutations affecting craniofacial development in zebrafish. - Zurich Open Repository and ArchiveMutations affecting craniofacial development in zebrafish. - Zurich Open Repository and Archive
In a large-scale screen for mutations affecting embryogenesis in zebrafish, we identified 48 mutations in 34 genetic loci specifically affecting craniofacial development. Mutants were analyzed for abnormalities in the cartilaginous head skeleton. Further, the expression of marker genes was studied to investigate potential abnormalities in mutant rhombencephalon, neural crest, and pharyngeal endoderm. The results suggest that the identified mutations affect three distinct aspects of craniofacial development. In one group, mutations affect the overall pattern of the craniofacial skeleton, suggesting that the genes are involved in the specification of these elements. Another large group of mutations affects differentiation and morphogenesis of cartilage, and may provide insight into the genetic control of chondrogenesis. The last group of mutations leads to the abnormal arrangement of skeletal elements and may uncover important tissue-tissue interactions underlying jaw development. ...
http://www.zora.uzh.ch/id/eprint/228/
2018 Craniofacial Morphogenesis and Tissue Regeneration Conference GRC2018 Craniofacial Morphogenesis and Tissue Regeneration Conference GRC
The 2018 Gordon Research Conference on Craniofacial Morphogenesis and Tissue Regeneration will be held in Lucca (Barga), Italy. Apply today to reserve your spot.
https://www.grc.org/craniofacial-morphogenesis-and-tissue-regeneration-conference/2018/
DMOZ - Health: Conditions and Diseases: Congenital Anomalies: Craniofacial Anomalies: Sticklers Syndrome
Sticklers Syndrome is a disorder affecting collagen, characterized by distinctive facial abnormalities, eye problems, hearing loss and joint problems.
http://dmoztools.net/Health/Conditions_and_Diseases/Congenital_Anomalies/Craniofacial_Anomalies/Stickler%27s_Syndrome/
Boy With Growth Retardation, Craniofacial Anomalies, and Hemihyperplasia | Contemporary PediatricsBoy With Growth Retardation, Craniofacial Anomalies, and Hemihyperplasia | Contemporary Pediatrics
A 4 1/2 year-old Hispanic boy is referred to the pediatric clinic because of failure to thrive and growth retardation. He was born at full-term in Mexico and weighed 1.9 kg at birth (lower than the 3rd percentile).
https://www.contemporarypediatrics.com/view/boy-growth-retardation-craniofacial-anomalies-and-hemihyperplasia
Sticklers Syndrome - Health, Conditions and Diseases, Congenital Anomalies, Craniofacial AnomaliesSticklers Syndrome - Health, Conditions and Diseases, Congenital Anomalies, Craniofacial Anomalies
Minhen i okolina - tražim posao čuvanja deteta, ili dece. Imam jako dobro iskustvo, predana sam i pedantna. Za sve dodatne informacije, možete me kontaktirati. Molim, samo ozbiljne ponude.. Jasmina 060/184- ...
http://www.inter.rs/kategorije/Health/Conditions_and_Diseases/Congenital_Anomalies/Craniofacial_Anomalies/Stickler%27s_Syndrome/
Craniofacial Anomalies | SpringerLinkCraniofacial Anomalies | SpringerLink
In 1988, a convicted murderer, Robert Francis, contended he had FAS and that his condition should be considered a mitigating factor in sentencing him for torturing and then shooting someone who...
https://link.springer.com/chapter/10.1007/978-1-4757-5217-5_8
Craniofacial development Flashcards - Cram.comCraniofacial development Flashcards - Cram.com
Study Flashcards On Craniofacial development at Cram.com. Quickly memorize the terms, phrases and much more. Cram.com makes it easy to get the grade you want!
http://www.cram.com/flashcards/craniofacial-development-508945
Genetic studies of SH3PXD2B and its contributions to ocular diseases by Mao Mao
In cultured cells, the adaptor protein SH3PXD2B is capable of recruiting a variety of proteins involved in invadosome assembly and function. It is therefore considered as an essential organizer of invadosomes active in cellular responses that require extracellular matrix degradation. Despite increasing knowledge about its properties and functions at the molecular and cellular levels, its physiological role in whole animals has not previously been assessed. Here, we present that SH3PXD2B is essential for normal postnatal development and disrupting SH3PXD2B can lead to glaucoma. Our work on SH3PXD2B is based on nee, a spontaneous mutation in mice which arose on an inbred background. Mice homozygous for the nee mutation were initially noted to exhibit runted growth, craniofacial abnormalities and ocular defects. Our additional physiological characterization has uncovered skeletal abnormalities, hearing impairment, infertility and a form of lipodystrophy. Using genetic mapping and DNA sequencing, the cause
http://ir.uiowa.edu/etd/3345/
Project MUSE - Surgically Shaping ChildrenProject MUSE - Surgically Shaping Children
At a time when medical technologies make it ever easier to enhance our minds and bodies, a debate has arisen about whether such efforts promote a process of normalization, which makes it ever harder to tolerate the natural anatomical differences among us. The debate becomes especially complicated when it addresses the surgical alteration, or shaping, of children. This volume explores the ethical and social issues raised by the recent proliferation of surgeries designed to make children born with physical differences look more normal. Using three cases-surgeries to eliminate craniofacial abnormalities such as cleft lip and palate, surgeries to correct ambiguous genitalia, and surgeries to lengthen the limbs of children born with dwarfism-the contributors consider the tensions parents experience when making such life-altering decisions on behalf of or with their children. The essays in this volume offer in-depth examinations of the significance and limits of surgical alteration through ...
http://muse.jhu.edu/book/3255
Craniofacial Trauma - Diagnosis and Management | Nicolas Hardt | SpringerCraniofacial Trauma - Diagnosis and Management | Nicolas Hardt | Springer
Craniofacial Trauma, Diagnosis and Management offers detailed guidance on the diagnosis, surgical planning, and interdisciplinary treatment of craniofacial trauma. The book is divided into two parts. The first, devoted to classification and diagnosis of craniofacial fractures, includes chapters on
https://www.springer.com/us/book/9783662500552?utm_campaign=bookpage_about_buyonpublisherssite&utm_medium=referral&utm_source=springerlink
Download Craniofacial Dysfunction And Pain: Manual Therapy, Assessment And Management 2000
By 1910, download Craniofacial o was back an hand on the McGill classification. Macdonald specialist reflected they covered a administration s that had their mixed crop. The Macdonald College Magazine, Please related in 1910, considered to Learn this establishment for a Macdonald study trading number. The download Craniofacial Dysfunction and were for over twenty jobs, until in 1932 the content operated to lose a statistical power and the Macdonald College Annual to enjoy more recognition for hat of part principles. get of the Failt-ye times Vol. The Failt-Ye Times had in 1932 found the binocular difficult foundation download, clustering on social strategies and Occurrence proposals at the Macdonald case. The Macdonald College Magazine, The Macdonald College Journal( 1940) and the Macdonald Farm Journal( 1952) was left to develop the the for Third same change. In 1968, during a sometimes so east download Craniofacial Dysfunction, the Failt-Ye Times refueled both its research and hand, inspired ...
http://skipwagner.net/pdf/download-Craniofacial-Dysfunction-and-Pain%3A-Manual-Therapy%2C-Assessment-and-Management-2000.php
DMOZ - Health: Conditions and Diseases: Genetic Disorders: Weaver Syndrome
Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average.
http://dmoztools.net/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome/
Dr. Jeff Hersh: What is Treacher-Collins syndrome? - News - The Dansville Online - Dansville, NY
A. Treacher-Collins syndrome is an uncommon congenital condition that causes craniofacial malformations, or abnormal development of the head and face.
http://www.dansvilleonline.com/x1365680087/Dr-Jeff-Hersh-What-is-Treacher-Collins-syndrome
Gene Expression Literature DetailGene Expression Literature Detail
J:125511 Loomes KM, Stevens SA, Obrien ML, Gonzalez DM, Ryan MJ, Segalov M, Dormans NJ, Mimoto MS, Gibson JD, Sewell W, Schaffer AA, Nah HD, Rappaport EF, Pratt SC, Dunwoodie SL, Kusumi K, Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects. Dev Dyn. 2007 Oct;236(10):2943-51 ...
http://www.informatics.jax.org/gxdlit/key/70550
PLOS Computational Biology: Biomedical Discovery Acceleration, with Applications to Craniofacial DevelopmentPLOS Computational Biology: Biomedical Discovery Acceleration, with Applications to Craniofacial Development
Author Summary Recent technology has made it possible to do experiments that show hundreds or even thousands of genes that play a role in a disease or other biological phenomena. Interpreting these experimental results in the light of everything that has ever been published about any of those genes is often overwhelming, and the failure to take advantage of all prior knowledge may impede biomedical research. The computer program described in this paper
http://journals.plos.org/ploscompbiol/article/figure?id=10.1371/journal.pcbi.1000215.g005
Case Reports - Reviews sub-cluster 70
OBJECTIVE: The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visualization and diagnosis of craniofacial dysmorphism. METHODS: In this prospective study, we performed three-dimensional (3D) ultrasound following good-quality two-dimensional (2D) ultrasound in an at-risk population. Findings from 2D and 3D examination were noted. RESULTS: Our ...
http://www.biomedsearch.com/cluster/53/Case-Reports-Reviews/sub-70-p7.html
Ph.D. Alumni «Ph.D. Alumni «
The Effect of Simultaneous, Controlled Release of Angiogenic and Osteogenic Growth Factors on the Enhancement of Osteogenesis within Craniofacial Defects ...
http://mikoslab.rice.edu/phd-alumni/
Department Detail V1 | Balaji Dental and Craniofacial HospitalDepartment Detail V1 | Balaji Dental and Craniofacial Hospital
At vero eos et accusamus et iusto odio dignissimos ducimus qui blanditiis praesentium voluptatum deleniti atque corrupti quos dolores et quas molestias excepturi sint occaecati cupiditate non provident similique sunt in culpa qui officia.. At vero eos et accusamus et iusto odio dignissimos ducimus qui blanditiis praesentium voluptatum deleniti atque corrupti quos dolores et quas molestias excepturi sint occaecati cupiditate non provident similique sunt in culpa qui officia ...
https://www.drsmbalaji.com/department-detail-v1/
Cleft Palate & Craniofacial Anomalies: Effects On Speech And Resonance (with Student Web Site Printed Access Card) Book Pdf...Cleft Palate & Craniofacial Anomalies: Effects On Speech And Resonance (with Student Web Site Printed Access Card) Book Pdf...
Details: rank: #18,362 price: $45.59 bound: publisher: Delmar Cengage Learning; 3 edition (April 18, 2013) lang: English asin: isbn: 1133732364, 978-1133732365, weight: 2.6 pounds ( filesize: Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance (with Student Web Site Printed Access Card) kindle epub mobi Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance (with Student Web Site Printed Access Card) 2nd edition epub format Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance (with Student Web Site Printed Access Card) book mobi download book Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance (with Student Web Site Printed Access Card) system book free download.rar Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance (with Student Web Site Printed Access Card) books beginners free download Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance (with Student Web Site Printed Access Card) pdf ...
http://tistcrantabattni.cd.st/cleft-palate-amp-craniofacial-anomalies-effects-on-speech-and-resonanc-a131519328
Genetic Analysis of Craniofrontonasal Syndrome - Tabular View - ClinicalTrials.govGenetic Analysis of Craniofrontonasal Syndrome - Tabular View - ClinicalTrials.gov
The scientific objective of this study is to determine if all patients with Craniofrontonasal Syndrome (CFNS) contain mutations in the ephrin-B1 (EFNB1) gene in Xq12. We will use mutational analysis of EFNB1 as our principal tool to study the genetics of CFNS. Previously, we had mapped the CFNS locus to a 13 cM region in Xp22 using linkage analysis of 12 unrelated CFNS families with 2 or more affected family members in 2-4 generations. More recently there have been two reports that 23 independent CFNS patients all have mutations in the EFNB1 located at Xq12. Hence, either CFNS displays genetic heterogeneity with at least two genes (one in Xp22 and EFNB1) or our previous linkage analysis was inaccurate and all CFNS patients have EFNB1 mutations.. We have previously collected a large number of coded blood samples from patients with DFNS. We propose to sequence the EFNB1 in all 12 of our previously published CFNS families as well as 6 additional families, 22 sporadic CFNS patients, and two CFNS ...
https://clinicaltrials.gov/ct2/show/record/NCT00339846
Frontonasal dysplasia - WikipediaFrontonasal dysplasia - Wikipedia
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull with protrusion of the brain) or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND. Midfacial malformations can be subdivided into two different groups. One group with hypertelorism, this includes FND. The other with hypotelorism (a decreased distance between the eyes), this includes holoprosencephaly (failure of development of the forebrain). In addition, a facial cleft ...
https://en.wikipedia.org/wiki/Frontonasal_dysplasia
Frontonasal dysplasia: MedlinePlus GeneticsFrontonasal dysplasia: MedlinePlus Genetics
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. Explore symptoms, inheritance, genetics of this condition.
https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/
GTF2IRD1 in craniofacial development of humans and mice. - Nuffield Department of Womens & Reproductive Health
Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders.
https://www.wrh.ox.ac.uk/publications/457532
prenatal alcoholprenatal alcohol
Date: June 2017 (Online). Source: JAMA Pediatrics, doi:10.1001/jamapediatrics.2017.0778. Question: Is there an association between different levels of prenatal alcohol exposure and child craniofacial shape at 12 months? Findings: This cohort study conducted an objective and sensitive craniofacial phenotype analysis of 415 children, which showed an association between prenatal alcohol exposure and craniofacial shape at almost […]. Read More ...
http://www.3dmd.com/tag/prenatal-alcohol/
Cleft Lip, Cleft Palate & Craniofacial Anomaly | Nemours/Alfred I. duPont Hospital for Children, WilmingtonCleft Lip, Cleft Palate & Craniofacial Anomaly | Nemours/Alfred I. duPont Hospital for Children, Wilmington
Our pediatric craniofacial surgeon and team repairs cleft palate and other craniofacial anomalies at Nemours/Alfred I. duPont Hospital for Children, Wilmington.
https://www.nemours.org/content/nemours/wwwv2/service/medical/cleftandcraniofacial.html?location=naidhc
A Drosophila model for fetal alcohol syndrome disorders: role for the insulin pathway | Disease Models & MechanismsA Drosophila model for fetal alcohol syndrome disorders: role for the insulin pathway | Disease Models & Mechanisms
The ability of alcohol to cause developmental anomalies has been demonstrated in a broad range of taxa, from insects to mammals. In humans, alcohol consumption during pregnancy can result in fetal alcohol syndrome (FAS), which consists of a persistent growth deficiency, craniofacial dysmorphology and deficient brain growth with associated neurocognitive deficits (Jones and Smith, 1973). FAS is the leading known cause of congenital mental retardation in the Western world (Pulsifer, 1996), and the most severe form of a broad range of disorders known as fetal alcohol spectrum disorder (FASD) (Hoyme et al., 2005). The prevalence of FAS in the world is one to three per 1000 births, indicating a serious medical and societal problem (May and Gossage, 2001). Despite the growing awareness of FAS and FASD (FAS/FASD) and posted warnings on alcoholic beverages, consumption of alcohol during pregnancy continues, highlighting the need for an understanding of the molecular basis of FAS and developing novel ...
http://dmm.biologists.org/content/4/3/335
Weaver Syndrome - CAGSWeaver Syndrome - CAGS
Amongst Weaver syndrome patients tested, some revealed intragenic mutations in the NSD1 gene (nuclear receptor binding SET domain protein 1), which was also associated with Sotos syndrome. The majority of identified NSD1 functional domains are located in exons 11-23 and the entire recognized mutations were clustered in these mutations. The mutations that are associated with Weaver syndrome are positioned in a minor specific fraction of the gene in exons 5, 16, 19, 22, and 23. The detection of NSD1 mutation in Weaver and Sotos syndrome patients reveals that both disorders are allelic, nevertheless, the possibility of a second separate Weaver syndrome gene exists. The precise pathophysiology and the etiology of the residual cases remain vague.. NSD1 gene consists of 2,696 amino acids and has a molecular weight of 296,652 kDa. The NSD1 gene provides directions for creating a protein with unknown function. This protein is active in numerous organs and tissues, comprising the brain, the kidney, ...
http://www.cags.org.ae/ctga/details.aspx?id=1328&pg=20&se=Latest
Disrupted Intercellular Communication Causes a Disfiguring Birth Defect
By PLoS Biology, Before a fertilized egg begins the repeated rounds of cell division that turn the single cell into a proliferating, streaming, differentiating mass of cells, its fate may already be sealed. Inherited mutations in genes involved in segregating and sorting embryonic cells can result in serious abnormalities in body patterning and appear to underlie an inherited X-linked disorder (so-called because the mutated genes lie on the X chromosome) called craniofrontonasal syndrome (CFNS). X-linked disorders tend to affect males more severely than females, because boys inherit just one X chromosome while girls inherit two: if one gene is defective, the other can fill in. CFNS is a rare departure from this pattern, with females exhibiting the most severe symptoms. This disfiguring disorder is characterized by a range of skull aberrations, including facial asymmetry, widely spaced eyes, and abnormal head shape, as well as polydactyly and fused digits ...
http://www.rxpgnews.com/research/cytology/article_4956.shtml
Craniofacial angle - definition of craniofacial angle by The Free DictionaryCraniofacial angle - definition of craniofacial angle by The Free Dictionary
Define craniofacial angle. craniofacial angle synonyms, craniofacial angle pronunciation, craniofacial angle translation, English dictionary definition of craniofacial angle. a geometric figure; an angular projection; a projecting corner: the angles of a building; a viewpoint; standpoint: He looked at the situation from every...
https://www.thefreedictionary.com/craniofacial+angle
Craniofacial index | definition of craniofacial index by Medical dictionaryCraniofacial index | definition of craniofacial index by Medical dictionary
Looking for online definition of craniofacial index in the Medical Dictionary? craniofacial index explanation free. What is craniofacial index? Meaning of craniofacial index medical term. What does craniofacial index mean?
https://medical-dictionary.thefreedictionary.com/craniofacial+index
Chromosome 12p deletion syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comChromosome 12p deletion syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Chromosome 12p deletion syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
https://www.rightdiagnosis.com/c/chromosome_12p_deletion_syndrome/intro.htm
Epigenetic landscapes and regulatory divergence of human craniofacial traits - Joanna WysockaEpigenetic landscapes and regulatory divergence of human craniofacial traits - Joanna Wysocka
During development, cranial Neural Crest Cells (cNCCs) play major roles in establishing craniofacial morphology and determining its species-specific variation....
https://grantome.com/grant/NIH/U01-DE024430-05
Neurocognitive Functioning in a Young Female with Weaver Syndrome | SciTechnolNeurocognitive Functioning in a Young Female with Weaver Syndrome | SciTechnol
Weaver Syndrome is a low frequency syndrome caused by mutations in the EZH2 gene. Individuals with Weaver Syndrome have similar physical abnormalities as well as overall ..
https://www.scitechnol.com/peer-review/neurocognitive-functioning-in-a-young-female-with-weaver-syndrome-D5pg.php?article_id=5922
socio-economical position and environmental elements. Due to the structural difficulty from the craniofacial area | kinase...socio-economical position and environmental elements. Due to the structural difficulty from the craniofacial area | kinase...
Keywords: Skeletal malocclusion, Micrognathia, Retrognathia, Prognathia, Late-onset illnesses Intro Disorders from the comparative mind and encounter have become common delivery problems in every racial populations, and can show up as isolated phenotype or within a symptoms. The prevalence of craniofacial anomalies varies among different ethnicities predicated on hereditary history, geography, socio-economical position and environmental elements. Due to the structural difficulty from the craniofacial area, variants in hereditary and environmental elements may have a serious influence on advancement, and could result in congenital birth problems. Cleft lip and palate is among the most typical birth problems with the best prevalence of just one 1 in 500 live births in Asian inhabitants [1]. Skeletal malocclusion can be another common delivery defect occurring because of the distortion from the maxillary and/or mandibular advancement that will possess a huge effect on Mouse monoclonal to Complement ...
http://cdkkinase.com/tag/socio-economical-position-and-environmental-elements-due-to-the-structural-difficulty-from-the-craniofacial-area/
Psychology Abstract » Microtia Ear Surgery
Children with craniofacial anomalies, such as microtia, experience significant teasing, rejection, and other negative social responses, such as social avoidance from others. These occurrences show trends toward social withdrawal, likely as a reaction to the negative reactions of others (Snyder, 2005). Children with craniofacial anomalies are treated differently than children without such defects; the affected children consequently have been shown to be more introverted and to express a more negative self-concept than unaffected children (Weinstein, 2005). These negative events may also result in decreased self-esteem, increased anxiety, behavioral problems, and difficulty with social integration. The patients who request ear reconstruction often complain of diminished self-consciousness and being teased by peers. Children born with microtia tend towards social isolation, they play less with other children, meet less people, and hide more commonly from certain people, and avoid school. The longer ...
http://microtiaearsurgery.com/psychology-abstract
Advances in Imaging Craniofacial Features - The Doctors ChannelAdvances in Imaging Craniofacial Features - The Doctors Channel
To view this video please enable JavaScript and consider upgrading to a web browser that supports HTML5 video Richard Alan Hopper, MD, Division Chief of Plastic Surgery and Surgical Director of the Craniofacial Program at Seattle Childrens Hospital & Regional Medical Center, discusses advanced imaging techniques. ...
https://www.thedoctorschannel.com/view/advances-in-imaging-craniofacial-features-2/
craniofacialcraniofacial
are often expressed in adjacent tissue layers, such a signaling loop may be a general feature of organogenesis. Exposure of chick embryos to cyclopamine (a steriodal alkaloid) inhibits the response of target cells to SHH signaling, and induces craniofacial malformations including fusion of optic vesicles, nasal placodes, and maxillary and mandibular arches (Cooper et al., 1998, Science 280:1603). To determine if these malformations result from loss of inductive signals, we treated chick embryos with cyclopamine and looked for changes in gene expression. Primitive streak-stage embryos were treated with 5 mg of cyclopamine for 3 days, fixed and subjected to in situ hybidization. Cyclopamine treatment results in a marked reduction of fgf8 ...
http://www.swarthmore.edu/NatSci/sgilber1/DB_lab/JCT%20research/craniofacial/craniofacial.html
Shriners Hospitals for Children | Shrine GameShriners Hospitals for Children | Shrine Game
Shriners Hospitals for Children is a health care system with 22 locations in the U.S., Canada and Mexico. Our staff is dedicated to improving the lives of children by providing pediatric specialty care, conducting innovative research, and offering outstanding teaching programs for medical professionals. Children up to age 18 with orthopaedic conditions, burns, spinal cord injuries, and cleft lip and palate are eligible for care, regardless of the families ability to pay. Within these broad service lines, many types of care are provided. For example, some locations offer reconstructive plastic surgery, treatment for craniofacial abnormalities or care for sports injuries. Generally, care is provided until age 18, although, in some cases, it may be extended to age 21. ...
http://www.shrinegame.com/shriners-hospital-for-children?email=1
Three-dimensional CT-guided custom implant for the repair of facial defects. - Free Online LibraryThree-dimensional CT-guided custom implant for the repair of facial defects. - Free Online Library
Free Online Library: Three-dimensional CT-guided custom implant for the repair of facial defects.(HEAD AND NECK CLINIC, computed tomography, Case study) by Ear, Nose and Throat Journal; Health, general CAT scans Health aspects Usage Craniofacial abnormalities Care and treatment Case studies Diagnosis Patient outcomes CT imaging
https://www.thefreelibrary.com/Three-dimensional+CT-guided+custom+implant+for+the+repair+of+facial+...-a0236428068
Pediatric Cleft and Craniofacial Center - Golisano Childrens Hospital - University of Rochester Medical CenterPediatric Cleft and Craniofacial Center - Golisano Childrens Hospital - University of Rochester Medical Center
At Golisano Childrens Hospital, we are proud to offer the regions only center dedicated to the needs and treatment of children born with cleft lip, cleft palate and other craniofacial anomalies. Our center consists of an interdisciplinary team of professionals, dedicated to offering a full range of services to the patient and family dealing with these types of birth defects. It is our mission to provide optimal care through a team-oriented approach and to stimulate and support research that will improve the quality of life for our patients. We strive to change faces, and, ultimately, to change lives.. ...
https://www.urmc.rochester.edu/childrens-hospital/craniofacial.aspx
DI-fusion Nerve growth factor in the developing craniofacial region of...
DI-fusion, le Dépôt institutionnel numérique de lULB, est loutil de référencementde la production scientifique de lULB.Linterface de recherche DI-fusion permet de consulter les publications des chercheurs de lULB et les thèses qui y ont été défendues.
http://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/110599/Details
AmeriFace- The Premier Support & Resource Organization for the Cleft/Craniofacial Community!
Are you caring for a child with cleft lip and/or palate or other craniofacial condition? Welcome to AmeriFace, the premier support organization for the cleft/craniofacial community!
http://www.ameriface.org
Childrens Craniofacial Center & Clinic | Nicklaus Childrens HospitalChildrens Craniofacial Center & Clinic | Nicklaus Childrens Hospital
The Nicklaus Childrens Hospital Craniofacial Center provides help for infants, children and young adults with craniofacial disorders. See the conditions we treat.
https://www.nicklauschildrens.org/medical-services/craniofacial-center/specialist-programs-and-services/nasoalveolar-molding-nam-treatment
Childrens Craniofacial Center & Clinic | Nicklaus Childrens HospitalChildrens Craniofacial Center & Clinic | Nicklaus Childrens Hospital
The Nicklaus Childrens Hospital Craniofacial Center provides help for infants, children and young adults with craniofacial disorders. See the conditions we treat.
https://www.nicklauschildrens.org/medical-services/craniofacial-center/patient-success-stories?lang=en
Mutagenetix > Incidental...Mutagenetix > Incidental...
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators ...
https://mutagenetix.utsouthwestern.edu/incidental/incidental_rec.cfm?mid=261916
Craniofacial Development and Genetics - School of Dentistry | UABCraniofacial Development and Genetics - School of Dentistry | UAB
Since the School of Dentistry was founded in 1948, we have developed a rich history of healthcare innovation and gained a national reputation for excellence.
https://www.uab.edu/dentistry/home/people/faculty/craniofacial-development-genetics
Swem vessie vir 18 maande oue dogtertjie | Health24Swem vessie vir 18 maande oue dogtertjie | Health24
Prof, ons het n swembad en ons dogtertjie van 18 maande is baie lief om saam met haar Pa in die swembad te swem . Hy hou haar in sy arms want sy kan nog nie op haar eie swem nie. Ek het haar op 7 maande geneem vir water veiligheid tipe lessies maar dit was maar meer om haar net gewoond te maak aan water. Wat ek wil weet is of daar n tipe van n vessie is soos n life jacket wat ek vir haar kan aantrek waarmee sy in die water kan gaan? Natuurlik is ons albei altyd by haar maar net om haar te leer swem op haar eie. Ek is baie bang vir die armpies en opblaas ringe waarmee ons grootgeword het wat om die magie kom, so bang sy tilt vooroor en dan hoe die ring haar gesiggie onder die water! Of weet u dalk van iets anders wat baie veilig is om vir hulle op daardie ouderdom aan te sit ...
https://www.health24.com/Medical/childhood-diseases/Experts/Question/swem-vessie-vir-18-maande-oue-dogtertjie-20121122
Grant Establishes myFace Center for Craniofacial Care at the Hansjörg Wyss Department of Plastic Surgery at Pelisyonkis Langone...
Grant establishes the myFace Center at Pelisyonkis Langone and further supports the provision of comprehensive and personalized craniofacial care. Learn more.
http://pelisyonkis.info/press-releases/grant-establishes-myface-center-for-craniofacial-care-at-the-hansjorg-wyss-department-of-plastic-surgery-at-nyu-langone
Cannot connect to server error code 36 - Hosting Blog
Both supernatant and pellet were analyzed by SDS-PAGE using Coomassie staining as described ( 31 ). Repeated cross-breeding of the mutant mice led to striking abnormalities in their offspring, generating a mouse model with multiple digits and craniofacial defects. Muziol, C. Our cannot connect to server error code 36 is to make our products as fail-safe as possible and thus guaranteeing at least 99. Cells were transfected connevt eGFP-hVPS4(EQ) and visualized for eGFP (B, D), or stained for TSG101 (C) or VPS28 (E). cPanelWHM and DirectAdmin also amazon ec2 terminalserver. Direct activation of a Ca2-dependent K channel. The city where the businessorganization is located. Phosphatase activity against a phosphorylated peptide connnect from the CI-MPR (CSSTKLVSFHDD(pS)DEDLLHI) were performed at room temperature in 20 mM Sefver (pH 7. You can securely file upload download to sql server using dynamic data services to your banking conndct, make transactions on public WIFI hotspots while encrypting your ...
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Garnier Olia 110 Verheldering - 3600541910874 || prijs-parfum.nlGarnier Olia 110 Verheldering - 3600541910874 || prijs-parfum.nl
Garnier Olia 110 - Verheldering - Haarverf:- Intense, levendige en langhoudende kleur- Zichtbaar verbeterde haarkwaliteit, kleur na kleur- 3x Glanzender haar**- 35% zachter haar**- Zonder ammoniak voor een aangename geur- Tot 100% GrijsdekkingErvaar nu de kracht van pure oliën met Garnier Olia!De permanente thuiskleuring met 100% grijsdekking op basis van 60% oliën* geeft het haar een intense kleur, een schitterende glans, en zichtbaar verbeterde haarkwaliteit, kleur na kleur! De thuiskleuring is zonder ammoniak voor een aangename geur.Ondervind nu ook de kracht van olie: 95% van de ondervraagden bij hettestpanel.nl vond hun haar glanzender en zachter na gebruik van Olia.TIP: Gebruik 2 verpakkingen vanaf schouder-lang haar! ✔ 3600541910874 Vergelijk online de prijzen van Parfum ✔ Eerst vergelijken dan Parfum kopen.
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Multiple ExtractionsMultiple Extractions
Read home care instructions following the Removal of Multiple Teeth provided by Metropolitan Craniofacial Center in New Jersey. 973-736-7616
http://www.metrocraniofacial.com/surgical-instructions/multiple-extractions/
First VisitFirst Visit
Prepare for your first visit to Metropolitan Craniofacial Center which will include a consultation and examination in New Jersey. 973-736-7616
http://www.metrocraniofacial.com/patient-information/first-visit/
Tag: feed • De MolenaarTag: feed • De Molenaar
Om haar transportnetwerk van diervoederproducten verder te versterken is Nijhof-Wassink een samenwerking met Emaus Mesthandel en Transport B.V. aangegaan. Met de derde nieuwe samenwerking in een korte periode worden de ambities van Nijhof-Wassink verder vormgegeven. Door haar transportcapaciteit nog verder vergroten en 24/7 flexibiliteit en… Lees verder →. ...
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EMCDDA | Over het EMCDDAEMCDDA | Over het EMCDDA
Het Europees Waarnemingscentrum voor drugs en drugsverslaving (EMCDDA) werd opgericht in 1993. Het EMCDDA is in 1995 officieel geopend als één van de gedecentraliseerde agentschappen van de EU en is gevestigd in Lissabon. Het doel van het EMCDDA is om de EU en haar lidstaten te voorzien van feitelijke overzichten van de Europese drugsproblematiek en goed onderbouwde bewijsgronden voor het voeren van het drugsdebat. Het verschaft beleidsmakers de benodigde gegevens zodat dezen op geïnformeerde wijze drugswetgeving en -strategieën kunnen opstellen. Ook helpt het EMCDDA behandelaars en andere vakmensen bij het vaststellen van de beste werkwijzen en het identifi ceren van nieuwe onderzoeksgebieden.. ...
http://www.emcdda.europa.eu/about-NL
Craniofacial abnormalityCraniofacial abnormality
"Craniofacial Abnormalities: Congenital Craniofacial and Musculoskeletal Abnormalities: Merck Manual Professional". Posnick, ... Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. They ... Craniofacial abnormalities". Archived from the original on August 23, 2004. " ...
https://en.wikipedia.org/wiki/Craniofacial_abnormality
Filippi syndromeFilippi syndrome
Furthermore, most people with Filippi Syndrome exhibit craniofacial abnormalities. Craniofacial abnormalities are birth defects ... Some of the craniofacial abnormalities present in people with Filippi Syndrome include microcephaly (having a skull that is ... Craniofacial abnormalities can be corrected through surgical methods. Affected individuals with severe hypertelorism may ... "Craniofacial Abnormalities". medlineplus.gov. Retrieved 2022-03-29. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Filippi ...
https://en.wikipedia.org/wiki/Filippi_syndrome
Kleeblattschaedel syndromeKleeblattschaedel syndrome
ISBN 978-1-68108-516-6. "Craniofacial Abnormalities". www.hopkinsmedicine.org. Retrieved 2021-10-02. Ketonen, L. M.; Hiwatashi ... The condition is either isolated or associated with other craniofacial dysostosises. 85% of children with this condition have ... ISBN 978-0-323-41519-4. Dalben, Gisele da Silva; Gomide, Marcia Ribeiro (2017-08-07). Craniofacial Disorders - Orofacial ...
https://en.wikipedia.org/wiki/Kleeblattschaedel_syndrome
Melnick-Needles syndromeMelnick-Needles syndrome
... causes distinctive craniofacial abnormalities. These include full cheeks, a prominent forehead, severe ... Syndromes with craniofacial abnormalities, Syndromes affecting the jaw, All stub articles, Genetic disorder stubs, Disease ... Spinal abnormalities may also occur (pectus excavatum). Kyphoscoliosis is common. S-like curvature of the leg bones is another ... Other abnormalities associated with Melnick-Needles syndrome include blue sclera, strabismus, bilateral exophthalmus, ...
https://en.wikipedia.org/wiki/Melnick–Needles_syndrome
Oto-palato-digital syndromeOto-palato-digital syndrome
Sharnetzka R (7 October 2020). "Hearing Loss, Cleft Conditions, and Craniofacial Abnormalities". The Hearing Review. Retrieved ... The conditions are characterised by skeletal abnormalities, cleft palate (a hole in the roof of the mouth), and hearing loss. ... These symptoms are common to craniofacial syndromes as a whole. Hand defects are particularly associated. Of the conditions, ...
https://en.wikipedia.org/wiki/Oto-palato-digital_syndrome
Hearing loss with craniofacial syndromesHearing loss with craniofacial syndromes
"Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia". Archives of Otolaryngology ... Cleft Palate-Craniofacial Journal Online for scholarly, peer-reviewed articles on topics related to clefting. (Hearing loss ... Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural ... Researchers have found that most patients with Treacher Collins syndrome have symmetric external ear canal abnormalities and ...
https://en.wikipedia.org/wiki/Hearing_loss_with_craniofacial_syndromes
ArrhiniaArrhinia
It is generally classified as a craniofacial abnormality. The cause of arrhinia is not known. Akkuzu's study of the literature ...
https://en.wikipedia.org/wiki/Arrhinia
Sleep apneaSleep apnea
... or significant craniofacial abnormalities which hinder device use. Several inpatient and outpatient procedures use sedation. ... Breathing abnormalities, Sleep disorders, Sleep physiology, Medical conditions related to obesity, Wikipedia medicine articles ...
https://en.wikipedia.org/wiki/Sleep_apnea
CraniosynostosisCraniosynostosis
Crouzon syndrome: Craniofacial abnormalities with bilateral coronal suture fusion; anterior and posterior of skull shortness, ... Fearon JA, Munro IR, Bruce DA (April 1995). "Observations on the use of rigid fixation for craniofacial deformities in infants ... The evaluation of a child suspected to have craniosynostosis is preferentially performed in a craniofacial center. The three ... Findings include elevation of the intracranial pressure; obstructive sleep apnea (OSA); abnormalities in the skull base and ...
https://en.wikipedia.org/wiki/Craniosynostosis
Musculoskeletal abnormalityMusculoskeletal abnormality
"Introduction: Congenital Craniofacial and Musculoskeletal Abnormalities: Merck Manual Professional". "UNSW Embryology- ... A musculoskeletal abnormality is a disorder of the musculoskeletal system present at birth. They can be due to deformity or ... Musculoskeletal System - Abnormalities". Archived from the original on 2008-04-09. v t e (Articles with short description, ...
https://en.wikipedia.org/wiki/Musculoskeletal_abnormality
BioelectricityBioelectricity
... craniofacial abnormalities, and osteoblast dysfunction". The Journal of Cell Biology. 151 (4): 931-44. doi:10.1083/jcb.151.4. ... Craniofacial defects associated with mutations in KCNH1 include cleft or high arched palate, hypertelorism, dysmorphic ears, ... Rivas, A; Francis, H. W (2005). "Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: A model of Jervell and Lange- ... the Down syndrome critical region such that duplications that include this region lead to craniofacial and limb abnormalities ...
https://en.wikipedia.org/wiki/Bioelectricity
Langer-Giedion syndromeLanger-Giedion syndrome
Individuals with Langer-Giedion syndrome may display characteristic craniofacial abnormalities. These include a long prominent ... Dental abnormalities, such as supernumerary central incisors and the absence of some teeth, may occur The right foot of a ... Skeletal abnormalities not affecting the hands and feet may also occur. These include winged scapula, thin ribs and scoliosis. ... small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. ...
https://en.wikipedia.org/wiki/Langer–Giedion_syndrome
Fetal alcohol spectrum disorderFetal alcohol spectrum disorder
Several characteristic craniofacial abnormalities are often visible in individuals with FAS. The presence of FAS facial ... While functional abnormalities are the behavioral and cognitive expressions of the FASD disability, CNS damage can be assessed ... Structural abnormalities of the brain are observable, physical damage to the brain or brain structures caused by prenatal ... Although drinking small amounts does not cause facial abnormalities, it may cause behavioral problems. Alcohol crosses the ...
https://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
Long face syndromeLong face syndrome
CS1: long volume value, Congenital oral disorders, Syndromes with craniofacial abnormalities). ... In addition, it is important to appreciate that many children with OSA have dentofacial abnormalities such as maxillomandibular ... Long face syndrome is "a common dentofacial abnormality.": 369 Its diagnosis, symptomology and treatments are complex and ... a Fellow in the Department of TMJ and Craniofacial Pain at the University of Minnesota School of Dentistry, noted: "There is a ...
https://en.wikipedia.org/wiki/Long_face_syndrome
Evolution of schizophreniaEvolution of schizophrenia
... including craniofacial abnormalities, desensitized cortical response to stress, and disorganized speech. A study published in ... craniofacial structure, and brain structural differences, as well as changes in behavior related reduced levels of stress ...
https://en.wikipedia.org/wiki/Evolution_of_schizophrenia
EncephaloceleEncephalocele
... s are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms may include ... Vermeij-Keers, C; Mazzola, R (1983). "Cerebro-craniofacial and craniofacial malformations: an embryological analysis". The ... Meara again led a cranio-facial surgical team to remove the encephalocele of an infant, Dominic Gundrum, the son of a Wisconsin ... Sulik, K; Cook, C (1988). ""Teratogens and craniofacial malformations: relationships to cell death"". Development. 103: 213-31 ...
https://en.wikipedia.org/wiki/Encephalocele
SIM2SIM2
"Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene". Developmental Dynamics. 224 (4): 373- ... particularly in the craniofacial area. Individuals with SIM2 -/- have either a full or partial secondary palate cleft and ...
https://en.wikipedia.org/wiki/SIM2
MAP3K7MAP3K7
Patients with gain of function mutations often present with craniofacial abnormalities. MAP3K7 has been shown to interact with ...
https://en.wikipedia.org/wiki/MAP3K7
Craniofacial regenerationCraniofacial regeneration
This can occur during surgery, where doctors fracture the face of a patient in order to correct craniofacial abnormalities such ... Craniofacial regrowth is broadly related to the mechanisms of general bone healing. Craniofacial regeneration is necessary ... Most patients who suffer from craniofacial abnormalities have a normal life expectancy, but symptoms are often present ... Transgenic animal models is just one way in which researchers are attempting to understand craniofacial abnormalities. These ...
https://en.wikipedia.org/wiki/Craniofacial_regeneration
Human geneticsHuman genetics
This mutation results in skeletal, craniofacial abnormalities, mental retardation, and short stature. X chromosomes in females ...
https://en.wikipedia.org/wiki/Human_genetics
Infantile Refsum diseaseInfantile Refsum disease
Patients can show craniofacial abnormalities, hepatomegaly (enlarged liver), and progressive adrenal dysfunction. Newborns may ...
https://en.wikipedia.org/wiki/Infantile_Refsum_disease
PAX6PAX6
Kaufman MH, Chang HH, Shaw JP (June 1995). "Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn ... Experiments in mice demonstrate that a deficiency in Pax-6 leads to decrease in brain size, brain structure abnormality leading ...
https://en.wikipedia.org/wiki/PAX6
Roberts syndromeRoberts syndrome
In craniofacial malformations, mildly affected individuals will have no abnormalities of the palate. The most severely affected ... The severity of limb malformations and craniofacial malformations is correlated. Other abnormalities can occur in different ... and craniofacial abnormalities. The specific characteristics that are looked for in the clinical diagnosis are listed below.[ ... and elbow and knee flexion contractures Craniofacial abnormalities- bilateral cleft lip and palate, micrognathia, hypertelorism ...
https://en.wikipedia.org/wiki/Roberts_syndrome
Douglas W. OwsleyDouglas W. Owsley
He eventually chose to draw on his knowledge and understanding of craniofacial abnormalities. His dissertation provided an ... "International Craniofacial Institute - Cleft Lip and Treatment Center". Craniofacial.net. Retrieved 2012-03-14. "Cleft lip and ... The tests confirmed Susie's beliefs that the abnormalities found in her husband's lungs were attributed to a source other than ...
https://en.wikipedia.org/wiki/Douglas_W._Owsley
3-M syndrome3-M syndrome
Many affected infants also have distinctive abnormalities of the head and facial (craniofacial) area. Many of the physical ... "Children's Craniofacial Association". Children's Craniofacial Association. Retrieved November 5, 2019. "Three M Syndrome". Rare ... Syndromes with craniofacial abnormalities, Disorders of synthesis of DNA, RNA, and proteins, Syndromes with short stature, Rare ... The skeletal abnormalities that are present in individuals with this disorder suggests that this gene may play a role in the ...
https://en.wikipedia.org/wiki/3-M_syndrome
Weaver syndromeWeaver syndrome
It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. It is ... Children with Weaver syndrome tend to look similar and have distinctive physical and craniofacial characteristics, which may ... They also have some neurological abnormalities such as speech delay, epilepsy, intellectual disability, hypotonia or hypertonia ...
https://en.wikipedia.org/wiki/Weaver_syndrome
Chromosome 22Chromosome 22
"Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene ... including an eye abnormality called ocular iris coloboma (a gap or split in the colored part of the eye), small skin tags or ... physical abnormalities, and other medical problems. These changes include an extra piece of chromosome 22 in each cell (partial ... This chromosomal abnormality, which is commonly called the Philadelphia chromosome, is found only in cancer cells. The ...
https://en.wikipedia.org/wiki/Chromosome_22
PAX9PAX9
"Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities". Genes & ... Pax9 is required for craniofacial, tooth and limb development, and may more generally involve development of stratified ...
https://en.wikipedia.org/wiki/PAX9
Ogden syndromeOgden syndrome
The boys had heart rhythm abnormalities and craniofacial abnormalities, which accounted for their similar appearance. The boys ... is an X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged ...
https://en.wikipedia.org/wiki/Ogden_syndrome
TFAP2ATFAP2A
Homozygous knockout mice also have neural tube defects followed by craniofacial and body wall abnormalities. In vivo gene ... Cranial neural crest cells populate the developing face and provide patterning information for craniofacial morphogenesis and ... NSCL/P occur in approximately 1/700 live births and is one of the most common form of congenital abnormalities. A previous ... "Transcription factor AP-2 essential for cranial closure and craniofacial development". Nature. 381 (6579): 235-8. Bibcode: ...
https://en.wikipedia.org/wiki/TFAP2A
Asymmetric crying faciesAsymmetric crying facies
Syndromes with craniofacial abnormalities, All stub articles, Genetic disorder stubs). ...
https://en.wikipedia.org/wiki/Asymmetric_crying_facies
List of diseases (C)List of diseases (C)
... and osseous defects mental retardation Craniofacial and skeletal defects Craniofacial deafness hand syndrome Craniofacial ... Collins-Pope syndrome Collins-Sakati syndrome Coloboma chorioretinal cerebellar vermis aplasia Coloboma hair abnormality ... dysostosis arthrogryposis progeroid appearance Craniofacial dysostosis Craniofacial dysynostosis Craniofaciocardioskeletal ... syndrome Craniodiaphyseal dysplasia Craniodigital syndrome mental retardation Cranioectodermal dysplasia Craniofacial ...
https://en.wikipedia.org/wiki/List_of_diseases_(C)
Anthony D. HolmesAnthony D. Holmes
Asi from Papua New Guinea so that Holmes and Neurosurgeon Mr Patrick Lo were able to correct a rare cranio-facial abnormality ... 1998 Asia Pacific Craniofacial Association Holmes is the Founder and Board Member of Children's Craniofacial Foundation of ... Melbourne where he set up The Melbourne Craniofacial Unit in 1979. He was head of Cleft and Craniofacial Surgery until 2009 and ... Holmes has trained over thirty Craniofacial Fellows, the majority of whom have become Heads of Departments in Australia and ...
https://en.wikipedia.org/wiki/Anthony_D._Holmes
Chromosome 16Chromosome 16
Richter, M (21 February 2018). "Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities ... Craniofacial development protein 1 CHDS1: Coronary heart disease, susceptibility to, 1 CIAPIN1: Anamorsin (originally, Cytokine ...
https://en.wikipedia.org/wiki/Chromosome_16
Diamond-Blackfan anemiaDiamond-Blackfan anemia
About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb ... September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia". Blood. 112 (5): ... The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome (TCS)/mandibulofacial dysostosis ( ... A variety of other congenital abnormalities may also occur in DBA. Diamond-Blackfan anemia is characterized by normocytic or ...
https://en.wikipedia.org/wiki/Diamond–Blackfan_anemia
Neural tube defectNeural tube defect
... deaf and display major craniofacial anomalies. The lack of a functioning cerebrum will prevent the infant from even gaining ... or had another pregnancy resulting in a congenital abnormality that was folate sensitive. Medium risk individuals would also ...
https://en.wikipedia.org/wiki/Neural_tube_defect
Leontiasis osseaLeontiasis ossea
Syndromes with craniofacial abnormalities). ...
https://en.wikipedia.org/wiki/Leontiasis_ossea
Human jaw shrinkageHuman jaw shrinkage
... craniofacial bone abnormalities, malocclusion, cross-bite, chronic gingivitis, candida infections, and halitosis. Due to ... This hypotonia of craniofacial muscles can be caused by lack of chewing stress, jaw posture and rest position, chronic nasal ... Significant craniofacial changes due to diet have even been experimentally shown in pigs during development; researchers fed ... Journal of craniofacial genetics and developmental biology, 17(2), 96-102. Harvold, E. P., Tomer, B. S., Vargervik, K., & ...
https://en.wikipedia.org/wiki/Human_jaw_shrinkage
Simpson-Golabi-Behmel syndromeSimpson-Golabi-Behmel syndrome
... craniofacial abnormalities, visceromegaly, renal abnormalities, congenital diaphragmatic hernia, polydactyly, and a single ... However, if these two causes can be ruled out, an ultrasound is performed to detect for overgrowth and other abnormalities. At ... Simpson-Golabi-Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, ... and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenotype and ...
https://en.wikipedia.org/wiki/Simpson–Golabi–Behmel_syndrome
Winchester syndromeWinchester syndrome
The abnormalities of the bone spread to other areas of the body, mostly the joints. This causes arthropathy: stiffening of the ... is mandatory for diagnosis of Winchester or MONA syndrome together with a detailed musculoskeletal examination and craniofacial ...
https://en.wikipedia.org/wiki/Winchester_syndrome
MicrotiaMicrotia
Infants that have noticeable abnormalities are closely monitored by physicians and hearing specialists. The goal of medical ... "Epidemiological Analysis and the Nomogram for Possible Risk Factors for Severe Microtia." The Journal of craniofacial surgery ... It is also occasionally associated with kidney abnormalities (rarely life-threatening), and jaw problems, and more rarely, ... While higher grade microtia can be visually diagnosed due to noticeable abnormalities. ...
https://en.wikipedia.org/wiki/Microtia
Craniopagus parasiticusCraniopagus parasiticus
The autosite can have some abnormalities, as well. For the most part, however, it has developed enough that it can live on its ... although there is a duplication of the craniofacial features. Diprosopus can range from having two fully formed faces to just a ...
https://en.wikipedia.org/wiki/Craniopagus_parasiticus
Laron syndromeLaron syndrome
... craniofacial abnormalities, micropenis, low blood sugar, and low serum IGF-1 despite elevated basal serum GH. LS is a very rare ... Other laboratory abnormalities include GHBP (growth hormone binding protein) levels being low in cases with mutations in the ... Correlation with CNS abnormalities". Horm. Metab. Res. 37 (12): 757-60. doi:10.1055/s-2005-921097. PMID 16372230. Cohen L (4 ... abnormalities of the IGF-1 gene or IGF-1 receptor. Secondary (acquired) GH insensitivity results from antibodies to growth ...
https://en.wikipedia.org/wiki/Laron_syndrome
Kallmann syndromeKallmann syndrome
Karyotype to check for chromosomal abnormalities. Performing wrist x-ray to determine bone age. Brain MRI to rule out any ... Cleft palate, cleft lip or other midline cranio-facial defects. Neural hearing impairment Absence of one of the kidneys ( ... structural abnormalities in the hypothalamus or pituitary and to check for presence of olfactory bulbs. Ultrasound of kidneys ...
https://en.wikipedia.org/wiki/Kallmann_syndrome
SmenkhkareSmenkhkare
Another study used craniofacial analysis and examined past x-rays on several 18th Dynasty mummies. That study found close ... Initial studies conducted on the KV55 mummy indicated that the individual was a young man with no apparent abnormalities in his ...
https://en.wikipedia.org/wiki/Smenkhkare
Keppen-Lubinsky syndromeKeppen-Lubinsky syndrome
Syndromes with craniofacial abnormalities, Syndromes affecting the skin, Syndromes with microcephaly, All stub articles, ...
https://en.wikipedia.org/wiki/Keppen–Lubinsky_syndrome
Balaji Dental and Craniofacial HospitalBalaji Dental and Craniofacial Hospital
... a life-threatening condition with severe abnormalities affecting head and face, has been operated upon in a Chennai hospital ... Balaji Dental and Craniofacial Hospital is the first dental hospital in Chennai and second in India to introduce Cone Beam CT ... Balaji Dental and Craniofacial Hospital is a dental and surgical care center based in Chennai, Tamil Nadu, India. It was ... S.M Balaji was the founder and director of Balaji Dental and Craniofacial Hospital. He is an international consultant ...
https://en.wikipedia.org/wiki/Balaji_Dental_and_Craniofacial_Hospital
Plastic surgeryPlastic surgery
Craniofacial surgery is divided into pediatric and adult craniofacial surgery. Pediatric craniofacial surgery mostly revolves ... congenital abnormalities, such as cleft palates or cleft lips; developmental abnormalities; infection and disease; and cancer ... Further training and subspecialisation is obtained via a craniofacial fellowship. Craniofacial surgery is also practiced by ... Adult craniofacial surgery deals mostly with reconstructive surgeries after trauma or cancer and revision surgeries along with ...
https://en.wikipedia.org/wiki/Plastic_surgery
Freeman-Sheldon syndromeFreeman-Sheldon syndrome
Syndromes with craniofacial abnormalities). ... Patients must have early consultation with craniofacial and ... DA2A (Freeman-Sheldon syndrome) is the most severe of the three, with more abnormalities and greater resistance to therapy. ... The focus is on limiting exposure to infectious diseases because the musculoskeletal abnormalities make recovery from routine ... orthopaedic surgeons, when craniofacial, clubfoot, or hand correction is indicated to improve function or aesthetics. Operative ...
https://en.wikipedia.org/wiki/Freeman–Sheldon_syndrome
Frontonasal dysplasiaFrontonasal dysplasia
2008). "Rare Craniofacial Clefts: A surgical Classification". J Craniofac Surg. 19 (1): 110-2. doi:10.1097/scs.0b013e31815ca1ba ... It is thought that acromelic frontonasal dysostosis occurs due to an abnormality in the Sonic Hedgehog (SSH) signaling pathway ... It is known that maternal diabetes plays a role in developing malformations of craniofacial structures and in OAVS. Therefore, ... Golabi M, Gonalez MC, Edwards MS (1983). "A new syndrome of oculoauriculovertebral dyspasia and midline craniofacial defect: ...
https://en.wikipedia.org/wiki/Frontonasal_dysplasia
MDP syndromeMDP syndrome
Syndromes with craniofacial abnormalities, Intersex variations). ... research has suggested that it may be caused by an abnormality ...
https://en.wikipedia.org/wiki/MDP_syndrome
Abruzzo-Erickson syndromeAbruzzo-Erickson syndrome
Correction of some abnormalities can be corrected with the use of extensive multidisciplinary craniofacial surgery. Physical ... The T-box transcription factor TBX22 plays an essential role in normal craniofacial development. Nonsense, frameshift, splice- ... dental abnormalities, and congenital heart malformation. However, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson ...
https://en.wikipedia.org/wiki/Abruzzo–Erickson_syndrome
Chromosome 13Chromosome 13
... craniofacial region), skeletal abnormalities (especially of the hands and feet), and other physical abnormalities. Intellectual ... and ear abnormalities). Researchers have not determined which other genes are located in the deleted region, but a loss of ...
https://en.wikipedia.org/wiki/Chromosome_13
Cephalometric analysisCephalometric analysis
The analysis interprets how the craniofacial growth may affect the pre and post treatment dentition. The analysis is based on 5 ... to study relationships between bony and soft tissue landmarks and can be used to diagnose facial growth abnormalities prior to ... The Cephalometer is used to obtain standardized and comparable craniofacial images on radiographic films. Lateral cephalometric ... a statistical approach to compare the variables of Delaire's craniofacial analysis to Bergen analysis". Clinical Oral ...
https://en.wikipedia.org/wiki/Cephalometric_analysis
Kurt HirschhornKurt Hirschhorn
Wolf-Hirschhorn syndrome (WHS), caused by a chromosomal abnormality, is characterized by typical craniofacial features in ...
https://en.wikipedia.org/wiki/Kurt_Hirschhorn
Jacobsen syndromeJacobsen syndrome
Syndromes with craniofacial abnormalities, Rare genetic syndromes). ... The condition can also be diagnosed early in the prenatal stage if there are any abnormalities seen in the ultrasound. A simple ... When the child's chromosomal abnormality occurs due to one of the parents' balanced translocation, the chances of another child ... having the abnormality is high. Diagnosing Jacobsen syndrome can be difficult in some cases because it is a rare chromosomal ...
https://en.wikipedia.org/wiki/Jacobsen_syndrome
Fibroblast growth factor receptor 2Fibroblast growth factor receptor 2
Crouzon syndrome, a craniofacial disorder with no hand or foot problems. and potential cleft palate, inherited as a dominant ... Apert syndrome, the best-known type of acrocephalosyndactyly, characterized by abnormalities of the skull and face, such as a ... FGFR2IIIc is found in mesenchyme, which includes craniofacial bone and for this reason the mutations of this gene and isoform ... Antley-Bixler syndrome, characterized by trapezoidal, craniofacial and skeletal synostosis, plus camptodactyly), inherited as a ...
https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_2
NeuromereNeuromere
If gene expression goes wrong, it can have severe effects on the developing embryo, causing abnormalities like craniofacial ... Ewings EL, Carstens MH (2009). "Neuroembryology and functional anatomy of craniofacial clefts". Indian J Plast Surg. 42 Suppl ( ... helping to support the development of craniofacial tissues. ...
https://en.wikipedia.org/wiki/Neuromere
Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlusCraniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus
... or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more. ... Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of ... ClinicalTrials.gov: Craniofacial Abnormalities (National Institutes of Health) * ClinicalTrials.gov: Craniosynostoses (National ... National Institute of Dental and Craniofacial Research) Also in Spanish * Holoprosencephaly (National Institute of Neurological ...
https://medlineplus.gov/craniofacialabnormalities.html
Browsing by Subject Craniofacial AbnormalitiesBrowsing by Subject "Craniofacial Abnormalities"
Global registry and database on craniofacial anomalies : report of a WHO Registry Meeting on Craniofacial Anomalies / Main ... WHO Registry Meeting on Craniofacial Anomalies (‎2001 : Bauru, Brazil)‎; Mossey, Peter A; Catilla, Eduardo E; WHO Human ... A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 ... Global strategies to reduce the health-care burden of craniofacial anomalies : report of WHO Meetings on International ...
https://extranet.who.int/iris/restricted/browse?authority=Craniofacial+Abnormalities&type=mesh
WHO EMRO | Craniofacial abnormalities | Health topics
MAXIMUM 150 WORDS: Remember: front load your paragraphs! This content should include a strong opening sentence describing the health topic in the Eastern Mediterranean (include key words "Eastern Mediterranean" and health topic name for search engine optimization). You should focus on the issue as it relates to the Region and the magnitude of problem in the region, as well as a brief mention of current situation/problem.. ...
http://www.emro.who.int/health-topics/craniofacial-abnormalities/
Cholesteatoma Clinical Presentation: History, Physical Examination, ComplicationsCholesteatoma Clinical Presentation: History, Physical Examination, Complications
Craniofacial abnormalities. A Danish study indicated that in persons with a cleft palate, the risk of cholesteatoma is 20-fold ...
https://www.medscape.com/answers/860080-200980/which-craniofacial-abnormality-is-associated-with-cholesteatomas
Craniofacial AbnormalitiesCraniofacial Abnormalities
... Summary. Craniofacial is a medical term that relates to the bones of the skull and face. ... CCA Newsletters Childrens Craniofacial Association. Clinical Trials. *ClinicalTrials.gov: Craniofacial Abnormalities National ... Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of ... Genetics Home Reference: craniofacial microsomia National Library of Medicine. *Genetics Home Reference: craniofacial-deafness- ...
https://www.chcrr.org/health-topic/craniofacial-abnormalities/
Specialty Services | Pediatric Dentistry and OrthodonticsSpecialty Services | Pediatric Dentistry and Orthodontics
Craniofacial Abnormalities Children born with head and facial abnormalities require care from many specialists. The ... For more information about the Craniofacial Center, contact: Tonya Landis, RN, Becky Hammoor, RN, and Kelli Vogelpohl, RN. ... The Division of Pediatric Dentistry and Orthodontics provides staff support for the Craniofacial Clinic at Shriners Hospitals ... Craniofacial Team, managed by the Division of Plastic Surgery, brings those specialties together. Our role is to recommend a ...
https://www.cincinnatichildrens.org/service/d/dentistry/services
Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation<...Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation<...
Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation. In: Journal of Craniofacial ... Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation. Journal of Craniofacial ... Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation. Journal of Craniofacial ... Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation, Journal of Craniofacial ...
https://ohsu.pure.elsevier.com/en/publications/craniofacial-and-otic-capsule-abnormalities-in-a-transgenic-mouse-2
Results of search for 'su:{Craniofacial abnormalities}' › WHO HQ Library catalog
Results of search for su:{Craniofacial abnormalities} Refine your search. *. Availability. * Limit to currently available ... Global registry and database on craniofacial anomalies : report of a WHO Registry Meeting on Craniofacial Anomalies / Main ... Orthodontics & Craniofacial Research [electronic resource]. Material type: Computer file; Format: electronic Publication ... by Mossey, Peter A , Catilla, Eduardo E , WHO Human Genetics Programme , WHO Registry Meeting on Craniofacial Anomalies (2001 ...
https://kohahq.searo.who.int/cgi-bin/koha/opac-search.pl?q=su:%7BCraniofacial%20abnormalities%7D
The Craniofacial Team | University HospitalsThe Craniofacial Team | University Hospitals
When should my child see a craniofacial team?. The best time for the first assessment of craniofacial abnormalities is within ... Plastic/craniofacial surgeon. A surgeon with special training in the diagnosis and treatment of abnormalities of the skull, ... The craniofacial treatment team. Many people may be involved in the management of craniofacial issues for your child. This is ... A genetic counselor also counsels your family on risk for craniofacial abnormalities to happen in future pregnancies. ...
https://www.uhhospitals.org/health-information/health-and-wellness-library/article/pediatric-diseases-and-conditions-v0/the-craniofacial-team
A diagnostic clinical genetic study of craniofacial dysmorphismA diagnostic clinical genetic study of craniofacial dysmorphism
In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had ... A diagnostic clinical genetic study of craniofacial dysmorphism. dc.contributor.author. Farag, H.M.. ... A diagnostic clinical genetic study of craniofacial dysmorphism. EN. dc.relation.ispartofjournal. EMHJ - Eastern Mediterranean ... A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 ...
https://apps.who.int/iris/handle/10665/118730?show=full
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathiesSyndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies
Craniofacial Abnormalities / genetics* * Craniofacial Abnormalities / pathology * Ether-A-Go-Go Potassium Channels / genetics* ...
https://pubmed.ncbi.nlm.nih.gov/33594261/
Rohit Khosla, M.D. | Stanford MedicineRohit Khosla, M.D. | Stanford Medicine
i>The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association,/i>, ... i>The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association,/i>, ... i>The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association,/i>, ... i>The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association,/i>, ...
https://med.stanford.edu/profiles/rohit-khosla
Syndromic Sensorineural Hearing Loss Clinical Presentation: History, Physical, CausesSyndromic Sensorineural Hearing Loss Clinical Presentation: History, Physical, Causes
Abnormalities of many systems have been associated with syndromic hearing loss, including the following:. * Craniofacial ... Lentigines - Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of ... Because abnormalities of virtually every organ system have been associated with sensorineural hearing loss (SNHL), physicians ... Medical problems or morphologic abnormalities of the ear, face, or other organ systems may, in association with hearing ...
https://emedicine.medscape.com/article/856116-clinical
Perspectives in Disease Prevention and Health Promotion Fetal Alcohol Syndrome: Public Awareness WeekPerspectives in Disease Prevention and Health Promotion Fetal Alcohol Syndrome: Public Awareness Week
... cranio-facial abnormalities. The number of children in the United States with FAS is not known. Its reported prevalence at ... abnormalities in their offspring called the fetal alcohol syndrome (FAS). Children with FAS may show a wide range of ...
https://www.cdc.gov/mmwr/preview/mmwrhtml/00000257.htm
Novel Method to Evaluate Children With Rare Skull AbnormalityNovel Method to Evaluate Children With Rare Skull Abnormality
Craniofacial surgeons across the country differ on when surgical intervention is needed for some abnormalities. Now, ... Novel Method to Evaluate Children With Rare Skull Abnormality Personalised Printable Document (PDF). Please complete this form ... However, depending on the severity of the skull abnormality, recommendations on when to surgically intervene vary among ... Novel Method to Evaluate Children With Rare Skull Abnormality. .article-author__avatar{float:left;}.article-author__avatar ...
https://www.medindia.net/news/novel-method-to-evaluate-children-with-rare-skull-abnormality-163777-1.htm
Plus itPlus it
Mutation in the Src gene leads to craniofacial abnormalities. During a routine observation of our animal colony, we noticed two ... The Src mutant mice show craniofacial abnormalities and growth retardation, both apparent in WBS. The mice have a short cranial ... and craniofacial abnormalities (Tassabehji et al, 2005; Young et al, 2008; Canales et al, 2014). It is possible that these two ... craniofacial abnormalities, and hyperactivity that overlap with symptoms of WBS in a mouse with disruption of Src. We also ...
https://www.eneuro.org/content/2/2/eneuro.0016-14.2015
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss | Genetics in MedicineGenetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss | Genetics in Medicine
... other craniofacial or ocular malformation or abnormality ... While abnormalities in many different single genes or gene ... genetic diseases in that the hearing loss usually results from abnormalities in single genes or gene pairs. However, some forms ... may have subtle clinical abnormalities that would allow diagnosis of a specific form of syndromic deafness. ...
https://www.nature.com/articles/gim200232?error=cookies_not_supported&code=3ac56b6b-b44e-4001-983d-5be16d4501a9
Ehlers-Danlos SyndromeEhlers-Danlos Syndrome
Craniofacial abnormality. *Skin involvement. *Variable Beighton Score. *Myopathic Ehlers-Danlos Syndrome (COL12A1, Autosomal ...
https://fpnotebook.com/mobile/Rheum/Peds/EhlrsDnlsSyndrm.htm
Search - NeL.eduSearch - NeL.edu
CASE: Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, ... Craniofacial Abnormalities, Foot Deformities, Hand Deformities, Humans, Male, Microcephaly, Rubinstein-Taybi Syndrome:diagnosis ... Case Reports 2015; 36(5): 417-420 PubMed PMID: 26707040 Citation Keywords: Abnormalities, Multiple, CREB-Binding Protein: ... INTRODUCTION: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial ...
https://www.nel.edu/journal/search/?keywords=Microcephaly
Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)
Categories: Craniofacial Abnormalities Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
https://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Craniofacial+Abnormalities&parentid=17350&catid=35450
Macrocephaly | Harvard Catalyst Profiles | Harvard CatalystMacrocephaly | Harvard Catalyst Profiles | Harvard Catalyst
Congenital Abnormalities [C16.131]. *Musculoskeletal Abnormalities [C16.131.621]. *Craniofacial Abnormalities [C16.131.621.207] ... A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. * ...
https://connects.catalyst.harvard.edu/Profiles/display/Concept/Macrocephaly
INSURANCE CODE CHAPTER 1367. COVERAGE OF CHILDRENINSURANCE CODE CHAPTER 1367. COVERAGE OF CHILDREN
RECONSTRUCTIVE SURGERY FOR CRANIOFACIAL ABNORMALITIES; DEFINITION REQUIRED. A health benefit plan that provides coverage for a ... "reconstructive surgery for craniofacial abnormalities" under the plan to mean surgery to improve the function of, or to attempt ...
https://statutes.capitol.texas.gov/Docs/IN/htm/IN.1367.htm
SPIN2B spindlin family member 2B [Homo sapiens (human)] - Gene - NCBISPIN2B spindlin family member 2B [Homo sapiens (human)] - Gene - NCBI
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Miyake N, et ...
https://www.ncbi.nlm.nih.gov/gene/474343
Search | Page 3 | The Embryo Project EncyclopediaSearch | Page 3 | The Embryo Project Encyclopedia
Role of Sonic Hedgehog (Shh) in Alcohol-Induced Craniofacial Abnormalities. Prenatal exposure to alcohol (ethanol) results in a ... Diprosopus (Craniofacial Duplication). Diprosopus is a congenital defect also known as craniofacial duplication. The exact ... Structural abnormalities of the CC occur along a continuum, like most alcohol-induced anomalies, whereby more severe prenatal ... FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous ...
https://embryo.asu.edu/search?text=University%20of%20Oxford&%3Bamp%3Bf%5B0%5D=dc_subject_embryo%3A143&%3Bamp%3Bf%5B1%5D=dc_subject_embryo%3A2988&%3Bf%5B0%5D=dc_subject_embryo%3A92&f%5B0%5D=dc_subject_embryo%3A310&page=2
Dyssomnias in children - Symptoms, diagnosis and treatment | BMJ Best Practice USDyssomnias in children - Symptoms, diagnosis and treatment | BMJ Best Practice US
craniofacial abnormalities (obstructive sleep apnea). *adenotonsillar hypertrophy (obstructive sleep apnea). *macroglossia ( ...
https://bestpractice.bmj.com/topics/en-us/781
Obstructive Sleep Apnea | Childrens Hospital of PhiladelphiaObstructive Sleep Apnea | Children's Hospital of Philadelphia
Other types of surgery are occasionally needed in children with craniofacial abnormalities. Weight loss and treatment of other ... Other children who are at high risk for sleep apnea include those with a small jaw, craniofacial syndromes, muscle weakness ( ...
https://www.chop.edu/conditions-diseases/obstructive-sleep-apnea
Frontiers | Possible functional links among brain- and skull-related genes selected in modern humansFrontiers | Possible functional links among brain- and skull-related genes selected in modern humans
Craniofacial abnormalities are also observed, as well as motor problems (plausibly due to a reduced number of motor neurons and ... related to craniofacial abnormalities and cognitive problems (Morris et al., 2003; Tassabehji et al., 2005), which represses ... Structural abnormalities of gray matter were reported in the anterior cingulate cortex, the cerebellum and the medial temporal ... 2005). GTF2IRD1 in craniofacial development of humans and mice. Science 310, 1184-1187. doi: 10.1126/science.1116142 ...
https://www.frontiersin.org/articles/10.3389/fpsyg.2015.00794/full
Schlosser G et al. (2008), Eya1 and Six1 promote neurogenesis in the crani... - Paper Schlosser G et al. (2008), Eya1 and Six1 promote neurogenesis in the crani... - Paper
Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. 2003, Pubmed Lamborghini, Rohon-beard cells and other ...
https://www.xenbase.org/entry/literature/article.do?method=display&articleId=37998
MalformationsAnomaliesSkeletalSyndromesBrain AbnormalitiesSkullMicrocephalyMusculoskeletal AbnormalitiesSyndromeCraniosynostosisCongenital heart dReconstructionChromosomal abnormalitiesCleft lipDiagnosisGeneticSurgeonsSurgeryCognitiveDefectsGeneticsCharacteristicChild'sSurgicallyHyperactivityMetabolicSevereReconstructiveStructuralPatientsChildrenIncludeSpecialistsFeaturesHead
Malformations6
  • He has an active practice in such subspecialty areas as brain and spinal cord tumors, craniofacial abnormalities, vascular malformations such as Moyamoya, AVMs and cavernous malformations. (nyp.org)
  • When used in conjunction with a 2D ultrasound, 3D ultrasonography can aid in the earlier diagnosis of many potential defects, including cleft lip or cleft palate, other craniofacial abnormalities, neural tube defects like spina bifida , and skeletal malformations. (parents.com)
  • Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. (bvsalud.org)
  • A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. (cdc.gov)
  • Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. (who.int)
  • Gestation day 9 was most sensitive to radiofrequency teratogenesis, with craniofacial malformations predominating. (cdc.gov)
Anomalies7
  • A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [‎8 females, 17 males]‎, age range 2 months to 47 years. (who.int)
  • They may also have an opening in the roof of the mouth, dental abnormalities, or other abnormalities of the head and face (craniofacial anomalies). (medlineplus.gov)
  • Reduction of SATB2 function is thought to impair normal development of the brain and craniofacial structures, leading to intellectual disability, delayed speech, craniofacial anomalies, and other features of SATB2 -associated syndrome. (medlineplus.gov)
  • Our team helps children who have cleft lip, cleft palate and other craniofacial anomalies. (source2seafood.org)
  • Children with cleft and craniofacial anomalies are more likely to have hearing problems and middle ear fluid. (source2seafood.org)
  • A rare syndrome characterized by postnatal short stature with cardiac defect (atrial septal defect, pulmonic stenosis) and craniofacial anomalies (facial features similar to Noonan Syndrome). (mhmedical.com)
  • The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. (e-cep.org)
Skeletal2
  • Facial features and skeletal abnormalities in Larsen syndrome - a study of three generations of a Tunisian family. (sbvjournals.com)
  • After discussing the present clinical case report and the related published literature, we concluded that skeletal class III malocclusions should be treated as soon as the first clinical signs of abnormal craniofacial growth are recognized, during the first years of life. (bvsalud.org)
Syndromes5
  • Other children who are at high risk for sleep apnea include those with a small jaw, craniofacial syndromes, muscle weakness (hypotonia) or Down syndrome. (chop.edu)
  • The Craniofacial Surgery Department treats successfully and with high standards any kind of facial abnormalities for children and adults such as congenital dysplasia, craniofacial dysplasia and syndromes, cleft lip % palates, functional problems such as septum problems as well as any cosmetic facial problems. (mitera.gr)
  • This can be affected by multiple factors including syndromes which contribute a significant role in craniofacial abnormalities. (sbvjournals.com)
  • This paper intends to bring out the craniofacial manifestations of syndromes which play an essential role in diagnosis and more interestingly serve as a window to overall systemic health exploring the associated systemic manifestations. (sbvjournals.com)
  • 1. Patients with syndromes or craniofacial abnormalities. (who.int)
Brain Abnormalities2
  • Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. (nih.gov)
  • We are renowned for our care of birth defects affecting the brain and/or spinal cord, including hydrocephalus (excess fluid in the brain), spinal cord disorders (such as spina bifida), congenital cysts, and congenital brain abnormalities. (nyp.org)
Skull3
  • Craniofacial is a medical term that relates to the bones of the skull and face. (medlineplus.gov)
  • A surgeon with special training in the diagnosis and treatment of abnormalities of the skull, facial bones, and soft tissue. (uhhospitals.org)
  • However, depending on the severity of the skull abnormality, recommendations on when to surgically intervene vary among craniofacial surgeons. (medindia.net)
Microcephaly2
  • Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. (orpha.net)
  • The milder craniofacial characteristics of HPE include microcephaly, midface flattening, hypotelorism (closely spaced eyes), flat nasal bridge, and single maxillary central incisor. (genome.gov)
Musculoskeletal Abnormalities1
  • Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities Craniofacial and musculoskeletal abnormalities are common among children. (merckmanuals.com)
Syndrome9
  • Medical problems or morphologic abnormalities of the ear, face, or other organ systems may, in association with hearing impairment, indicate a recognizable syndrome. (medscape.com)
  • Clinical studies have shown that heavy use of alcohol by pregnant women may result in a pattern of severe and irreversible abnormalities in their offspring called the fetal alcohol syndrome (FAS). (cdc.gov)
  • Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland. (nel.edu)
  • Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects. (biomedcentral.com)
  • A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2. (jax.org)
  • Miller-Dieker syndrome is a contiguous gene deletion syndrome involving chromosome 17p13.3, which is characterized by type 1(classical) lissencephaly and typical craniofacial abnormalities. (koreamed.org)
  • Elif BT, Daisuke O, Kei O, Mine Y, Figen S, Koray G, Takahide M. Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases. (sbvjournals.com)
  • This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome. (who.int)
  • We also treat less common conditions such as Apert syndrome, Crouzon Syndrome, Treacher Collins Syndrome, and craniofacial clefts. (source2seafood.org)
Craniosynostosis3
  • They coordinate all surgeries with the craniofacial surgeons (for example, craniosynostosis). (uhhospitals.org)
  • While it may not be a suitable measurement for all craniosynostosis patients, in certain cases in which the premature fusion of the frontal bones is not as pronounced, surgeons can benefit by adding the cephalic width-intercoronal distance ratio to their evaluation," said Muzaffar, who also serves as the director of craniofacial and pediatric plastic surgery at MU. (medindia.net)
  • The study, "Evaluating Children with Metopic Craniosynostosis: The Cephalic Width-Intercoronal Distance Ratio," recently was published in the July 2016 issue of The Cleft Palate-Craniofacial Journal. (medindia.net)
Congenital heart d2
  • 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. (orpha.net)
  • The manifestations include congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. (mhmedical.com)
Reconstruction1
  • As the major concern of the parents was cosmetic, craniofacial reconstruction was performed with good cosmetic outcome. (who.int)
Chromosomal abnormalities2
  • In all, 15 patients had chromosomal abnormalities. (who.int)
  • sequenced balanced chromosomal abnormalities (BCAs) in a group of individuals with neurodevelopmental disorders and found a single disruption to CHD8 in an individual diagnosed with autism. (spectrumnews.org)
Cleft lip1
  • Cleft lip and palate are the most common congenital face abnormalities (1/650 births). (mitera.gr)
Diagnosis1
  • Clinical symptoms and signs such as proptosis, strabismus, diplopia, and optic disc edema are nonspecific, and diagnostic imaging studies play an essential role in depicting the nature and extent of orbital abnormalities, often providing a definitive diagnosis or a relevant differential diagnosis. (radiologykey.com)
Genetic1
  • A genetic counselor also counsels your family on risk for craniofacial abnormalities to happen in future pregnancies. (uhhospitals.org)
Surgeons2
  • Craniofacial surgeons across the country differ on when surgical intervention is needed for some abnormalities. (medindia.net)
  • Under the medical direction of a plastic/craniofacial surgeon and a geneticist, that team may include an orthodontist, oral surgeon, pediatric dentist, pediatrician, pediatric nurses, pediatric nutritionists, Child Life specialists and ear, nose and throat surgeons. (sutterhealth.org)
Surgery9
  • The Craniofacial Team, managed by the Division of Plastic Surgery , brings those specialties together. (cincinnatichildrens.org)
  • Craniofacial Surgery Department was created to offer comprehensive care in the field of fissures and other craniofacial abnormalities in Greece, according to the international standards and therapeutic protocols. (mitera.gr)
  • The Department's high level of specialization as well as its staff's experience on treatment and rehabilitation of children and adults facial abnormalities through state-of-the-art methods and surgical techniques, classify MITERA's Craniofacial Surgery Department as a centre of excellence in Europe. (mitera.gr)
  • It is acknowledged by the European Society of Craniofacial Surgery . (mitera.gr)
  • The Reconstructive Surgery Act, legislation that will cover cleft/craniofacial patients of ALL ages, has not yet been re-introduced to this session of Congress. (thepetitionsite.com)
  • For example, some locations offer reconstructive plastic surgery, treatment for craniofacial abnormalities or care for sports injuries. (sabbarshriners.org)
  • IMSEAR at SEARO: Craniofacial surgery for craniometaphyseal dysplasia. (who.int)
  • Ahmad FU, Mahapatra AK, Mahajan H. Craniofacial surgery for craniometaphyseal dysplasia. (who.int)
  • It includes a selection of treatments, consisting of microsurgery, craniofacial surgical procedure, hand surgery, and melt surgical procedure. (flexradiowiki.com)
Cognitive2
  • Patients with deletions including YWHAE but not PAFAH1B1 presented with significant growth restriction, cognitive impairment, shared craniofacial features, and variable structural abnormalities of the brain. (bmj.com)
  • Microdeletions of chromosome 17p13.3 involving YWHAE present with growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment. (bmj.com)
Defects3
  • Craniofacial abnormalities are birth defects of the face or head. (medlineplus.gov)
  • Isotretinoin is a molecule and a byproduct (metabolite) of vitamin A, and in greater than normal amounts in pregnant women, it can cause fetal abnormalities including cleft lips, ear and eye defects, and mental retardation. (asu.edu)
  • It is carried out to repair a range of problems, including birth defects, disease issues, and also congenital abnormalities. (flexradiowiki.com)
Genetics1
  • Journal of Craniofacial Genetics and Developmental Biology , 18 (4), 195-201. (elsevier.com)
Characteristic1
  • and a characteristic pattern of cranio-facial abnormalities. (cdc.gov)
Child's3
  • The best time for the first assessment of craniofacial abnormalities is within your child's first few weeks of life. (uhhospitals.org)
  • A surgeon who will help evaluate and manage ear infections and hearing loss that may be side effects of your child's cleft abnormality. (uhhospitals.org)
  • Craniofacial conditions affect a child's physical appearance - and more. (source2seafood.org)
Surgically1
  • Surgical management of snoring and OSA is indicated when a surgically correctable abnormality is believed to be the source of the problem and the patient has tried continuous positive airway pressure (CPAP) without success. (medscape.com)
Hyperactivity1
  • We identified phenotypes such as increased sociability, visuospatial deficits, craniofacial abnormalities, and hyperactivity that overlap with symptoms of WBS in a mouse with disruption of Src . (eneuro.org)
Metabolic1
  • The vast majority of inherited metabolic diseases are caused by enzymes and transport protein abnormalities. (ersjournals.com)
Severe1
  • The most severe is cyclopia , an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye. (genome.gov)
Reconstructive1
  • Under this type of legislation, health insurance and managed care companies will be forced to recognize that ongoing medical procedures needed by craniofacial patients are not cosmetic, but are reconstructive in nature. (thepetitionsite.com)
Structural1
  • This module will empower the oral hygiene student to recognise and refer limited developmental and structural abnormalities of the growing and mature dento-craniofacial structures. (up.ac.za)
Patients7
  • The Division of Pediatric Dentistry and Orthodontics provides staff support for the Craniofacial Clinic at Shriners Hospitals for Children − Cincinnati, as well as for patients who have received facial burns involving the perioral area. (cincinnatichildrens.org)
  • petition: Stop Insurance Denials for Cleft & Craniofacial Patients in the United States! (thepetitionsite.com)
  • Please sign the petition in support of eliminating healthcare disparities for cleft/craniofacial patients! (thepetitionsite.com)
  • Many more individuals become craniofacial patients each year due to burns, trauma and diseases like oral/head/neck cancer. (thepetitionsite.com)
  • unfortunately, craniofacial conditions do not simply disappear when a child reaches adulthood and many patients do not even acquire their condition until adulthood. (thepetitionsite.com)
  • Patients come from all over to our Fetal Echocardiography Service to receive care from dedicated specialists with expertise diagnosing and treating abnormalities affecting the heart. (nyp.org)
  • The cleft and craniofacial team at Johns Hopkins All Children's Hospital treats patients with congenital and acquired abnormalities of the head and neck. (source2seafood.org)
Children1
Include1
  • Common craniofacial abnormalities include having a broad forehead, thin vermilion border, and frontal hirsutism. (musicastorrent.com)
Specialists1
  • Our craniofacial team is a group of specialists who are experts in these areas. (source2seafood.org)
Features2
  • Abnormal craniofacial features of a transgenic mouse model of chondrodysplasia with a type II collagen mutation (Gly574Ser) are described in this report. (elsevier.com)
  • Intracranial abnormalities and extra-craniofacial features are frequently associated. (cdc.gov)
Head1
  • Head and facial abnormalities can make activities such as eating and speaking difficult. (sutterhealth.org)