Congenital craniostenosis with syndactyly.
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A plant genus of the family POACEAE. The common name of buffelgrass is also used for PENNISETUM.
A characteristic symptom complex.
Information intended for potential users of medical and healthcare services. There is an emphasis on self-care and preventive approaches as well as information for community-wide dissemination and use.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Genes that influence the PHENOTYPE only in the homozygous state.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
The magnitude of INBREEDING in humans.
Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.
A single-chain polypeptide growth factor that plays a significant role in the process of WOUND HEALING and is a potent inducer of PHYSIOLOGIC ANGIOGENESIS. Several different forms of the human protein exist ranging from 18-24 kDa in size due to the use of alternative start sites within the fgf-2 gene. It has a 55 percent amino acid residue identity to FIBROBLAST GROWTH FACTOR 1 and has potent heparin-binding activity. The growth factor is an extremely potent inducer of DNA synthesis in a variety of cell types from mesoderm and neuroectoderm lineages. It was originally named basic fibroblast growth factor based upon its chemical properties and to distinguish it from acidic fibroblast growth factor (FIBROBLAST GROWTH FACTOR 1).
A family of small polypeptide growth factors that share several common features including a strong affinity for HEPARIN, and a central barrel-shaped core region of 140 amino acids that is highly homologous between family members. Although originally studied as proteins that stimulate the growth of fibroblasts this distinction is no longer a requirement for membership in the fibroblast growth factor family.
A fibroblast growth factor receptor that is found in two isoforms. One receptor isoform is found in the MESENCHYME and is activated by FIBROBLAST GROWTH FACTOR 2. A second isoform of fibroblast growth factor receptor 2 is found mainly in EPITHELIAL CELLS and is activated by FIBROBLAST GROWTH FACTOR 7 and FIBROBLAST GROWTH FACTOR 10. Mutation of the gene for fibroblast growth factor receptor 2 can result in craniosynostotic syndromes (e.g., APERT SYNDROME; and CROUZON SYNDROME).
A fibroblast growth factor receptor with specificity for FIBROBLAST GROWTH FACTORS; HEPARAN SULFATE PROTEOGLYCAN; and NEURONAL CELL ADHESION MOLECULES. Several variants of the receptor exist due to multiple ALTERNATIVE SPLICING of its mRNA. Fibroblast growth factor receptor 1 is a tyrosine kinase that transmits signals through the MAP KINASE SIGNALING SYSTEM.
A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.
A 17-kDa single-chain polypeptide growth factor that plays a significant role in the process of WOUND HEALING and is a potent inducer of PHYSIOLOGIC ANGIOGENESIS. It binds to HEPARIN, which potentiates its biological activity and protects it from proteolysis. The growth factor is an extremely potent inducer of DNA synthesis in a variety of cell types from mesoderm and neuroectoderm lineages, and also has chemotactic and mitogenic activities. It was originally named acidic fibroblast growth factor based upon its chemical properties and to distinguish it from basic fibroblast growth factor (FIBROBLAST GROWTH FACTOR 2).
A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)
A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME.
The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY).
A type of fibrous joint between bones of the head.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
A plant genus of the family LAMIACEAE. The common names of beebalm or lemonbalm are also used for MONARDA.
The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.
Projection of near-IR light (INFRARED RAYS), in the 700-1000 nm region, across an object in parallel beams to an array of sensitive photodetectors. This is repeated at various angles and a mathematical reconstruction provides three dimensional MEDICAL IMAGING of tissues. Based on the relative transparency of tissues to this spectra, it has been used to monitor local oxygenation, brain and joints.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
A genus known for fibers obtained from their leaves: sisal from A. sisalana, henequen from A. fourcroyoides and A. cantala, or Manila-Maguey fiber from A. cantala. Some species provide a sap that is fermented to an intoxicating drink, called pulque in Mexico. Some contain agavesides.
An intracellular proteinase found in a variety of tissue. It has specificity similar to but narrower than that of pepsin A. The enzyme is involved in catabolism of cartilage and connective tissue. EC 3.4.23.5. (Formerly EC 3.4.4.23).
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)
Organizations and individuals cooperating together toward a common goal at the local or grassroots level.
A species in the genus PHLEBOVIRUS causing PHLEBOTOMUS FEVER, an influenza-like illness. Related serotypes include Toscana virus and Tehran virus.
Influenza-like febrile viral disease caused by several members of the BUNYAVIRIDAE family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.
A genus of the family BUNYAVIRIDAE comprising many viruses, most of which are transmitted by Phlebotomus flies and cause PHLEBOTOMUS FEVER. The type species is RIFT VALLEY FEVER VIRUS.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.
The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES.
The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.
Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.
The shell-like structure projects like a little wing (pinna) from the side of the head. Ear auricles collect sound from the environment.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
An agency of the NATIONAL INSTITUTES OF HEALTH concerned with overall planning, promoting, and administering programs pertaining to advancement of medical and related sciences. Major activities of this institute include the collection, dissemination, and exchange of information important to the progress of medicine and health, research in medical informatics and support for medical library development.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A computerized biomedical bibliographic storage and retrieval system operated by the NATIONAL LIBRARY OF MEDICINE. MEDLARS stands for Medical Literature Analysis and Retrieval System, which was first introduced in 1964 and evolved into an online system in 1971 called MEDLINE (MEDLARS Online). As other online databases were developed, MEDLARS became the name of the entire NLM information system while MEDLINE became the name of the premier database. MEDLARS was used to produce the former printed Cumulated Index Medicus, and the printed monthly Index Medicus, until that publication ceased in December 2004.

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. (1/135)

Saethre-Chotzen syndrome (ACS III) is an autosomal dominant craniosynostosis syndrome recently ascribed to mutations in the TWIST gene, a basic helix-loop-helix (b-HLH) transcription factor regulating head mesenchyme cell development during cranial neural tube formation in mouse. Studying a series of 22 unrelated ACS III patients, we have found TWIST mutations in 16/22 cases. Interestingly, these mutations consistently involved the b-HLH domain of the protein. Indeed, mutant genotypes included frameshift deletions/insertions, nonsense and missense mutations, either truncating or disrupting the b-HLH motif of the protein. This observation gives additional support to the view that most ACS III cases result from loss-of-function mutations at the TWIST locus. The P250R recurrent FGFR 3 mutation was found in 2/22 cases presenting mild clinical manifestations of the disease but 4/22 cases failed to harbour TWIST or FGFR 3 mutations. Clinical re-examination of patients carrying TWIST mutations failed to reveal correlations between the mutant genotype and severity of the phenotype. Finally, since no TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis, the present study suggests that TWIST mutations are specific to Saethre-Chotzen syndrome.  (+info)

Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders. (2/135)

Craniosynostoses are a heterogeneous group of disorders characterized by premature fusion of cranial sutures. Mutations in fibroblast growth factor receptors (FGFRs) have been associated with a number of such conditions. Nevertheless, the cellular mechanism(s) involved remain unknown. We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts. Osteoblasts from craniosynostotic patients exhibited a lower proliferation rate than control osteoblasts. P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes. By contrast, the low proliferation rate of C342R osteoblasts was not associated with a differentiated phenotype. Although they showed higher alkaline phosphatase activity than control, C342R osteoblasts failed to mineralize and expressed low levels of osteopontin and osteonectin and high protein kinase Czeta levels. Stimulation of proliferation and inhibition of differentiation were observed in all cultures on FGF2 treatment. Our results suggest that an anticipated proliferative/differentiative switch, associated with alterations of the FGFR transduction pathways, could be the causative common feature in craniosynostosis and that mutations in distinct FGFR2 domains are associated with an in vitro heterogeneous differentiative phenotype.  (+info)

Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. (3/135)

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)

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. (4/135)

Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been found to account for the disorder in approximately 98% of affected patients. Seven cases of prenatal ultrasound diagnosis have been reported. Although one earlier diagnosis has been made in a familial case, sporadic cases have not been definitively diagnosed until the third trimester when craniosynostosis is usually detected. We report a second-trimester molecular diagnosis of a sporadic case, based on the ultrasound observation of fetal 'mitten hands' and craniosynostosis. We discuss the approach to such ultrasound features, given the current availability of molecular diagnosis for Apert syndrome.  (+info)

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (5/135)

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. 4x10-7; 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34. 50+/-7.65 years vs. 30.45+/-1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations.  (+info)

Integration of FGF and TWIST in calvarial bone and suture development. (6/135)

Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. Although clinically achieving the same end result, the premature fusion of the calvarial bones, it is not known whether these genes lie in the same or independent pathways during calvarial bone development and later in suture closure. We have previously shown that Fgfr2c is expressed at the osteogenic fronts of the developing calvarial bones and that, when FGF is applied via beads to the osteogenic fronts, suture closure is accelerated (Kim, H.-J., Rice, D. P. C., Kettunen, P. J. and Thesleff, I. (1998) Development 125, 1241-1251). In order to investigate further the role of FGF signalling during mouse calvarial bone and suture development, we have performed detailed expression analysis of the splicing variants of Fgfr1-Fgfr3 and Fgfr4, as well as their potential ligand Fgf2. The IIIc splice variants of Fgfr1-Fgfr3 as well as the IIIb variant of Fgfr2 being expressed by differentiating osteoblasts at the osteogenic fronts (E15). In comparison to Fgf9, Fgf2 showed a more restricted expression pattern being primarily expressed in the sutural mesenchyme between the osteogenic fronts. We also carried out a detailed expression analysis of the helix-loop-helix factors (HLH) Twist and Id1 during calvaria and suture development (E10-P6). Twist and Id1 were expressed by early preosteoblasts, in patterns that overlapped those of the FGF ligands, but as these cells differentiated their expression dramatically decreased. Signalling pathways were further studied in vitro, in E15 mouse calvarial explants. Beads soaked in FGF2 induced Twist and inhibited Bsp, a marker of functioning osteoblasts. Meanwhile, BMP2 upregulated Id1. Id1 is a dominant negative HLH thought to inhibit basic HLH such as Twist. In Drosophila, the FGF receptor FR1 is known to be downstream of Twist. We demonstrated that in Twist(+/)(-) mice, FGFR2 protein expression was altered. We propose a model of osteoblast differentiation integrating Twist and FGF in the same pathway, in which FGF acts both at early and late stages. Disruption of this pathway may lead to craniosynostosis.  (+info)

Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. (7/135)

Fibroblast growth factors (FGF) play a critical role in bone growth and development affecting both chondrogenesis and osteogenesis. During the process of intramembranous ossification, which leads to the formation of the flat bones of the skull, unregulated FGF signaling can produce premature suture closure or craniosynostosis and other craniofacial deformities. Indeed, many human craniosynostosis disorders have been linked to activating mutations in FGF receptors (FGFR) 1 and 2, but the precise effects of FGF on the proliferation, maturation and differentiation of the target osteoblastic cells are still unclear. In this report, we studied the effects of FGF treatment on primary murine calvarial osteoblast, and on OB1, a newly established osteoblastic cell line. We show that FGF signaling has a dual effect on osteoblast proliferation and differentiation. FGFs activate the endogenous FGFRs leading to the formation of a Grb2/FRS2/Shp2 complex and activation of MAP kinase. However, immature osteoblasts respond to FGF treatment with increased proliferation, whereas in differentiating cells FGF does not induce DNA synthesis but causes apoptosis. When either primary or OB1 osteoblasts are induced to differentiate, FGF signaling inhibits expression of alkaline phosphatase, and blocks mineralization. To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells. Both mutations inhibited differentiation, while dramatically inducing apoptosis. Furthermore, we could also show that overexpression of FGF2 in transgenic mice leads to increased apoptosis in their calvaria. These data provide the first biochemical analysis of FGF signaling in osteoblasts, and show that FGF can act as a cell death inducer with distinct effects in proliferating and differentiating osteoblasts.  (+info)

A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. (8/135)

Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). Here we show that mice carrying a Pro250Arg mutation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-posteriorly shortened, laterally widened and vertically heightened neurocraniums. Analysis of the posterior and anterior frontal, sagittal and coronal sutures of early post-natal mutant mice revealed premature fusion. The sutures of mutant mice had accelerated osteoblast proliferation and increased expression of genes related to osteoblast differentiation, suggesting that bone formation at the sutures is locally increased in Pfeiffer syndrome. Of note, dramatically increased expression of core-binding transcription factor alpha subunit type 1 (Cbfa1) accompanied premature fusion, suggesting that Cbfa1 may be a downstream target of Fgf/Fgfr1 signals. This was confirmed in vitro, where we demonstrate that transfection with wild-type or mutant Fgfr1 induces Cbfa1 expression. The induced expression was also observed using Fgf ligands (Fgf2 and Fgf8). These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.  (+info)

Description of disease Acrocephalosyndactyly. Treatment Acrocephalosyndactyly. Symptoms and causes Acrocephalosyndactyly Prophylaxis Acrocephalosyndactyly
Pfeiffer syndrome - The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.. Pfeiffer syndrome (MIM 101600) patients have craniosynostosis with broad thumbs and/or great toes that are medially deviated. Brachydactyly and variable degrees of syndactyly may occur. Pfeiffer syndrome has been divided into three subtypes. Type 1 is clinically the least severe and has the best prognosis. Patients have bicoronal craniosynostosis, moderate to severe midface hypoplasia and they usually have a normal life span and normal intelligence. About 5% of Pfeiffer syndrome type 1 patients have a specific FGFR1 mutation and ...
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly. It was first characterized in 1909. Carpenter syndrome presents several features: Tower-shaped skull (craniosynostosis) Additional or fused digits (fingers and toes) Obesity Reduced height Intellectual disability is also common with the disorder, although some patients may have average intellectual capacity. Carpenter Syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly, abbreviated ACPS (RN, 2007). There were originally five types of ACPS, but this number has been decreased because they have been found to be closely related to one another or to other disorders (Paul A. Johnson, 2002). The most common physical manifestation of Carpenter Syndrome is early fusing of the fibrous cranial sutures which results in an abnormally pointed head. The fusion of the skull bones ...
BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ears, and other variable facial and limb abnormalities. Surgical management of the craniosynostosis addresses the calvarial deformity and may relieve or reduce the risk of intracranial hypertension. The aim of this study was to assess surgical intervention, with particular consideration of the reoperation rate for intracranial hypertension, in Saethre-Chotzen syndrome patients. METHODS: A retrospective case note analysis was performed on all patients with a confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit over a 15-year period. Each patients mutation and clinical features were recorded. Surgical intervention and sequelae were examined in greater detail. RESULTS: Thirty-four patients with genetically confirmed Saethre-Chotzen
Biomed Rep. 2019 Feb;10(2):107-112. doi: 10.3892/br.2019.1181. Babies with Apert syndrome are born with a distorted shape of the head and face. , Epub 2019 Jan 3. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. eCollection 2019 May. The cohort of Apert patients presented a satisfactory quality of life. Patient-reported quality of life in highest-functioning Apert and Crouzon syndromes: a comparative study. Rev Paul Pediatr. Apert syndrome: review and report a case. This site needs JavaScript to work properly. Clipboard, Search History, and several other advanced features are temporarily unavailable. Apert syndrome: quality of life and challenges of a management protocol in Brazil. Diagnosis of infant synostotic and nonsynostotic cranial deformities: a review for pediatricians. 2014 Feb;133(2):182e-91e. Raposo-Amaral CE, Denadai R, do Monte Lameiro TM, de Oliveira YM, Raposo-Amaral CA. doi: 10.1097/PRS.0b013e318262f355. METHODS: Thirty-three ...
Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly. The patient was found to have a flattened occiput with frontal prominence, abnormal contour of head (brachycephaly), shallow and downward slanting orbits with bilateral proptosis, hypertelorism, retruded midface, and prognathic mandible.Dental anormalies were present in a patient. Intraoral evaluation revealed normal mouth opening with anterior severe skeletal open bite and Byzantine-arch palate, maxillary alveolar ridges with crowding of maxillary and mandibular teeth, poor hygiene with heavy dental calculus and periodontal pseudopocket, dental caries, severe anterior open bite and crossbite, macroglosia and smooth tongue. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the Apert syndrome. Keywords Acrocephalosyndactylia, ...
Saethre-Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not. Individuals with SCS are all affected differently. Even within the same family, affected individuals have different features. The majority of individuals with SCS are ...
The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.. Apert syndrome (MIM 101200) is a relatively severe form of FGFR2 related craniosynostosis with numerous organ systems being affected. Findings in Apert syndrome include turribrachycephalic skull shape a wide open anterior fontanelle at birth, broad thumbs and great toes that deviate away from the other digits, variable syndactyly of hands and feet, but involving at least the central 3 digits of the hands, incomplete postaxial polydactyly of the hands and preaxial polydactyly of the feet, progressive synostosis of the cervical vertebrae, and bones of ...
Facial findings include midface hypoplasia (where the centre of the face develops more slowly than the eyes, forehead, and lower jaw). In Apert syndrome, the hypoplasia is generally moderate to severe with hypoplasia of the maxilla, shallow orbits, strabismus, hypertelorism, down-slanting palpebral fissures, proptosis, as well as depressed nasal bridge and deviated nasal septum.. Dental findings include delayed appearance of the teeth which may also be impacted and crowded in the mouth with thick, swollen gums. Unilateral and bilateral posterior crossbites are frequent. A posterior crossbite occurs when the top back teeth bite inside the bottom back teeth. Common associated complications include chronic otitis media (ear infections), hearing loss, and increased ocular (eye) pressure that can cause blindness.. Moderate to severe intellectual disability and variable developmental delay are also common in AS (more than 50% of cases). Some patients are also reported to have agenesis of the corpus ...
Apert syndrome is a condition that causes abnormal growth of the head, face, hands and feet. During pregnancy, the skull bones join together too early, which prevents them from growing normally. As a result, the area between the bottom of the eyes and jaw are often underdeveloped, making the eyes appear more prominent. Webbed fingers and toes are also common in children born with Apert syndrome. ...
Primary findings associated with Carpenter syndrome include premature closure of the fibrous joints (cranial sutures) between particular bones in the skull (craniosynostosis), characteristic facial abnormalities, and/or malformations of the fingers and toes (digits). However, associated features may vary in range and severity from one person to another, even among affected members of the same family.. Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their childrens physician and medical team about their child, ...
Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C,G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of ...
Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified …
Apert Syndrome Symptom Checker: Possible causes include Autosomal Dominant Prognathism. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
WebMD describes Apert syndrome, a genetic disorder that can cause abnormalities in the formation of the head and other parts of the body.
Charitable organization set up to provide direct financial and emotional assistance to families affected by Apert Syndrome. Donations welcomed. ...
Learn what Apert syndrome is and how some of its symptoms can be treated. Contact UPMC Children's Hospital of Pittsburgh for a consultation with an expert.
NORDERYD J*, Bergendal B National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden. Purpose: The aim of this investigation was to assess the level of oral hygiene in children and adults with Apert syndrome and
PFEIFFER SYNDROME TYPE 2 description, symptoms and related genes. Get the complete information in our medical search engine for phenotype-genotype rel
Symptoms of the following disorders can be similar to those of Jackson-Weiss syndrome. Comparisons may be useful for a differential diagnosis:. Apert syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities, and intellectual disability. (For more information on this disorder, choose Apert syndrome as your search term in the Rare Disease Database.). Carpenter syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). Carpenter ...
Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, anomalies of the palate and tracheal cartilage, combined with cervical spine abnormalities, may lead to difficult airway management). Radiographs of the cervical spine may be helpful in the evaluation process. Request echocardiography for patients with congenital cardiac lesions. Because up to one third of the children affected with these conditions present with intraoperative respiratory problems, recent upper respiratory infections might require cancellation of the procedure in these patients in the presence of an active or recent upper airway infection should be low. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and increases to 35% with two or more sutures affected. ...
In terms of symptoms, patients with this medical condition exhibit cranial malformations. Another major sign that an individual is suffering from this disease is the development of a prominent forehead, which is usually associated with a posterior skull that is flat. Mental deficiency is also very much possible, especially if there is a development of increased cranial pressure. When the mid-facial bones experience growth deficiency, there is a chance for the patient to develop a concave face or a flat face. Other possible symptoms of the disease include low-set ears, broadly spaced eyes and shallow bony orbits.. One of the clearest signs that a patient is suffering from this condition is syndactyly, specifically of the feet and hands. Synonychia is also a possibility, wherein two or more nails can fuse together. In most cases, patients experience malformed and broad big toe and thumb. Additionally, expect the condition to progress as the patients continue to grow. In order to prevent the ...
In July 2013, Jacob (13) and I (his mother) traveled across the country, almost 3,000 miles, to meet Connor (16) and his large, loving family. Click on the picture to to read the article that appeared in Connors local newspaper a few days after our arrival. I dont know who all elses eyes the boys comments brought tears to, but at one point I had to walk away before I lost all semblance of control. What an amazing experience the whole trip was! ...
Pfeiffer MVP30-3DC Diaphragm Vacuum Pump Item Description: Pfeiffer Vacuum Pump 24V PKT01191A Dimensions: 9 Width 6 Depth 6 Height Condition: Used and in very good cosmetic shape Unit is untested and sold as is Item may contain minor scratching and scuffing from normal use Missing handle Missing power supply
Duration of response among patients who achieve a complete response or partial response by Response Evaluation Criteria in Solid Tumors 1.1 (Design #2, Phase II ...
To cover the majority of applications, Pfeiffer Vacuum has developed two calibration systems - a basic system and a high-end system.
As production wraps on the Marvel Studios last film of 2018, fans finally got their first look at fan-favorite Avenger known as Janet van Dyne.Actor Michelle Pfeiffer plays the cinematic version of the character, making her debut in the MCU in Ant-Man and the Wasp. Now recent photos from the set [...]
Perencevich, E. N., Harris, A. D., Pfeiffer, C., Rubin, M. A., Hill, J. N., Baracco, G. J., Evans, M. E., Klutts, J. S., Streit, J. A., Nelson, R. E., Khader, K. & Reisinger, H. S., Feb 1 2018, In : Infection control and hospital epidemiology. 39, 2, p. 189-195 7 p.. Research output: Contribution to journal › Comment/debate ...
Bibliography of the books and papers of Carl C. Pfeiffer, MD, including his work on trace minerals, megavitamin therapy and nutrition.
Hosted by the Complex Traits GroupMandatory for all Biochemistry Graduate Students Julie Pfeiffer, PhDAssociate ProfessorDepartment of MicrobiologyUniversity of Texas Southwestern Medical Center
Objectives. To analyze the correlation, sensitivity, specificity and positive predictive (PPV) and negative predictive (NPV) values of each question on the Pfeiffer questionnaire (SPMSQ) compared with the full questionnaire for polypathological patients (PPPs).. Methods. Multicentre cross-sectional study. An SPMSQ score is considered pathological if 3 or more errors are recorded. For each question and combination of 2 questions, we calculated the correlation (kappa index), sensitivity, specificity and predictive values compared with the full SPMSQ.. Results. Of the 1632 PPPs included (mean age, 77.9±9.8 years, 53% men), 1434 performed the SPMSQ (the remaining presented delirium); 39% of the PPPs were pathological. The question What day is it today? and the command Count backwards by 3s from 20 obtained good correlation and NPV (85 and 89%, respectively); the combination of both increased the NPV to 97%. The question When were you born? achieved good correlation and greater PPV ...
On the day that Microsoft detailed its e-commerce strategy, Compaq CEO Eckhard Pfeiffer took up the Internet cudgel for his company while visiting Australia.
At the panel, Feige also confirmed that Laurence Fishburne will be playing Dr. Bill Foster, Walton Goggins will be portraying Sonny Birch, and that the characters Jimmy Woo and Ghost will be joining the ever-growing cast of Ant-Man and the Wasp.. Pfeiffer is one of the greatest actresses of our generation, and we are beyond thrilled to see her joining the MCU as such an intriguing and important character. We cant wait to see her wear Janet Von Dynes classic suit.. Images: Warner Bros/ ...
Lines were constructed essentially as described by Pfeiffer et al. (2010) using entry clones generated as described in Pfeiffer et al. (2008). To transfer the enhancer regions to split-GAL4 destination vectors, ∼50 ng of each entry clone was used in Gateway reactions with LR clonase (Thermo Fisher) and either pBPZpGAL4DBDUw or pBPp65ADZpUw (Pfeiffer et al. 2010; available from Addgene, plasmids 26233 and 26234, respectively). The p65 AD replaces the native GAL4 AD in pBPp65ADZpUw, which results in stronger transcriptional activation and insensitivity to inactivation by GAL80. BPp65ADZp and BPZpGDBD, hemidriver constructs that lack an enhancer fragment, were constructed by substituting the GAL4 coding sequence in pBPGAL4U (Pfeiffer et al. 2008) with the split-GAL4 coding sequences from pBPp65ADZpUw and pBPZpGAL4DBDUw, respectively, using KpnI and HindIII sites. DNA for injections was prepared from 5-ml overnight cultures using a QIAprep kit (QIAGEN, Valencia, CA) and verified by EcoRI ...
Would you like to work in the health and fitness field? Prepare for exercise science jobs with an exercise science degree from Pfeiffer.
Trying to choose a North Carolina college? Explore one of the most beautiful college campuses, Pfeiffer University Misenheimer campus.
Gain-of-function mutations in FGFR1, FGFR2 and FGFR3 are responsible for many forms of craniosynostosis and dwarfism syndromes. With significance to the mission of the Growing Stronger Organization, Dr. Mohammadis lab has elucidated the structural basis by which these pathogenic mutations lead to over-activation of FGFRs in these skeletal diseases. His structural and biochemical analysis of pathogenic gain-of-function mutations in the tyrosine kinase domain of FGFR have led to the discovery of a novel autoinhibitory molecular brake at the kinase hinge/interlobe region that is disengaged to different extent by different mutations, leading to a range of ligand-independent activation of FGFR. Likewise his structural and biochemical investigations of ligand-dependent FGFR2c p.S252W and FGFR2c p.P253R mutations, responsible for Apert syndrome (AS), have revealed that these mutations introduce additional contacts between the mutated FGFR and FGF to increase the affinity of the mutated FGFR for both ...
Homo sapiens fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant 3, mRNA. (H00002260-R30) - Products - Abnova
Homo sapiens fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant 1, mRNA. (H00002260-R28) - Products - Abnova
Merci was born with Pfeiffer Syndrome. It causes early bone fusion. This primarily affected the bones in her head. Her elbows are also fused. I was fortunate to be able to see my newest niece already. She has already had her first photo shoot:) A week after her birth she had her first surgery to relieve the pressure on her brain from the early bone fusion. She did great and her head shape looks really good! We were all so impressed. One week after that she had a tracheostomy. Her nasal passage is closed on one side and so very tiny on the other. If all goes well, she will have it for 1-2 years. She is being cared for by some of the best doctors/teams in the world at Mayo Clinic and we are so grateful for that. She is so sweet and we are happy to have her here with us. I know that my sister is anxious to get her home ...
Link. Mutations in SCN10A are responsible for a large fraction of cases of Brugada Syndrome, Dan Hu, Hector Barajas-Martínez, Ryan Pfeiffer, Fabio Dezi, Jenna Pfeiffer, Tapan Buch, Matthew J Betzenhauser, Luiz Belardinelli, Kristopher M Kahlig, Sridharan Rajamani, Harry J DeAntonio, Robert J Myerburg, Hiroyuki Ito, Pramod Deshmukh, Mark Marieb, Gi-Byoung Nam, Atul Bhatia, Can Hasdemir, Michel Haïssaguerre, Christian Veltmann, Rainer Schimpf, Martin Borggrefe, Sami Viskin, and Charles Antzelevitch (Article). ...
Michael, The argument that other applications expose such an interface is not a use case for including them in HTML5. You will need to demonstrate a user situation where the user/web developer cant do something unless the API is available in the browser. Right now, all use cases discussed on the HTML WG list were solvable with server-side APIs. Cheers, Silvia. On Thu, May 5, 2011 at 12:14 AM, Thierry MICHEL ,[email protected], wrote: , Sylvia, HTML WG, , , To follow up on your discussion in HTML5 about metadata access and the , Ontology and API for Media Resources, and our previous email [1]followed by , Sylvia responses [2a, 2b] about the Media API [3] , , Sylvia seem to say that you dont need such API in the browser to extract , video/audio/image metadata. It would be done server-side. , , On the other hand Leonard says [4] that the API for metadata access to , media would be a appropriate for Web UAs like for axample EPUB3 (based on , HTML5) allowing scripting. , , The MAWG would like to have ...
Michel Panisset, Jean Hall, Jean Hubble, Magali Fernandez, Carson Reider, Ali Rajput, Alex Rajput, Theresa Shirley, Tilak Mendis, David A. Grimes, Peggy Gray, Carmen Serrano Ramos, Sandra Roque, Ronald Pfeiffer, Brenda Pfeiffer, Lawrence Elmer, Kathy Davis, Joseph Friedman, Hubert Fernandez, Margaret Lannon, Stephen Reich, Becky Dunlop, Lauren Seeberger, Christopher OBrien, Deborah Judd, Robert Hauser, Theresa Zesiewicz, Holly Delgado, Deborah Fontaine, Danna Jennings, Kenneth Marek, Susan Mendick, Michael Aminoff, Mariann DiMinno, Peter Lewitt, Maryan De Angelis, Rajesh Pahwa, Stephanie Thomas, Daniel Truong, Mayank Pathak, An Tran, Robert Rodnitzky, Judith Dobson, William Koller, William Weiner, Kelly Lyons, Roger Kurlan, Debra Berry, John Bertoni, Carolyn Peterson, Wayne Martin, Marguerite Wieler, Paul Tuite, Robyn Schacherer, Juliette Harris, Joseph Jankovic, Christine Hunter, Anthony Lang, Galit Kleimer-Fisman, Anette Nieves, Julie So, Stewart Factor, Sharon Evans, Bala Manyam, Brian ...
Hello, Mrs Baker, and thank you for letting me speak today. Hi class, my name is Mr Devereaux, and Im here to talk to you about my chosen career in government. Im also your class president, Zaks, dad. Hi, Zak!. Zak? Oh, hes not responding. Well, at home hes not embarrassed to talk to me as a peer. We often discuss the broadsheets together at breakfast. Im sure a lot of you are the same with your dads.. No?. OK, well, Ill get on with telling you about my job. Im a commissioner for the state for social programs, which means Im in charge of buying services that I think will help the people in this state thrive. Im sure Zak would have told you all about it already.. Youre looking blankly at me, OK: so, a person who buys services is called a commissioner. Its a tough one to spell, but luckily, not quite as hard to do!. No?. OK, so there are lot of families out there who need a bit of help living in a way we consider normal, and a lot of families who need help bringing up their children ...
Ive been doing Vibrational Alignment work for over 15+ years and hold over 20 metaphysical certificates.. Prior to that, I worked as a Licensed Social Worker and worked with lots of people suffering from various sets of issues… but I dont practice as a Social Worker anymore.. Ive come to find that our combination of ABOVE WORK (Soul Energy Work) and BELOW WORK (Belief Work) are able to get my clients back into Alignment in LESS TIME than traditional therapeutic interventions and with GREATER RESULTS!. I created all our programs to help you accelerate the process of identifying and shifting limiting thoughts that hold you back from creating the type of life you want to live!. I use my Mad Energy Healing Skills to help you create profound personal shifts at an accelerated rate & release Energetic blocks -so you can go from blocked and uncertain to clear and on purpose as you Shift Into Greater Alignment!. Now, I wish to share these advanced processes with you, and save you years of ...
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Utilizing high-density recordings allowing for the simultaneous recording of hundreds of neurons from hippocampal areas CA1 and CA3, we aim to explore how spatial information is represented, consolidated, and retrieved by the hippocampus. By recording from hundreds of neurons simultaneously, both spatial and non-spatial information can be extracted from the spike trains of the recorded neurons, providing access to episodic-like memory formation and recall mechanisms. ...
This Histri was built automatically but not manually verified. As a consequence, the Histri can be incomplete or can contain errors ...
There is growing recognition in the medical profession today that the nonmotor features of Parkinsons Disease (PD) have received insufficient attention,
Our accessories can be used to adapt our rotary vane pumps ideally to your process. This protects your pump and prevents pump failure.
Pfeiffer RA (1964). "Dominant erbliche Akrocephalosyndaktylie" [Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für ... acrocephalosyndactylia) that were inherited in an autosomal dominant pattern. In 1996, a son was born to American musician ...
8th cranial nerve lesion Optic nerve compression Intellectual disability Syndactyly Acrocephalosyndactylia Mosby's Medical ...
... acrocephalosyndactylia MeSH C05.116.099.370.894.819 - syndactyly MeSH C05.116.099.370.894.819.100 - acrocephalosyndactylia MeSH ... acrocephalosyndactylia MeSH C05.660.906.819 - syndactyly MeSH C05.660.906.819.100 - acrocephalosyndactylia MeSH C05.660.906.819 ... acrocephalosyndactylia MeSH C05.660.585.800.756 - poland syndrome MeSH C05.660.585.984 - thanatophoric dysplasia MeSH C05.660. ... acrocephalosyndactylia MeSH C05.660.207.410 - holoprosencephaly MeSH C05.660.207.525 - leopard syndrome MeSH C05.660.207.540 - ...
... acrocephalosyndactylia MeSH C16.131.621.906.819 - syndactyly MeSH C16.131.621.906.819.100 - acrocephalosyndactylia MeSH C16.131 ... acrocephalosyndactylia MeSH C16.131.621.585.800.756 - Poland syndrome MeSH C16.131.621.585.984 - thanatophoric dysplasia MeSH ... acrocephalosyndactylia MeSH C16.131.621.207.410 - holoprosencephaly MeSH C16.131.621.207.525 - Leopard syndrome MeSH C16.131. ...
... at the US National Library of Medicine Medical Subject Headings (MeSH) v t e v t e. ... Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly. It has several ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia. *Acrocyanosis. *Acrodermatitis. *Acrodermatitis chronica atrophicans. *Acrodermatitis enteropathica. * ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1] ... Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH) ... Retrieved from "https://en.wikipedia.org/w/index.php?title=Acrocephalosyndactylia&oldid=827318465" ...
Acrocephalosyndactylia / genetics* * Chromosome Mapping * Chromosomes, Human, Pair 6 * Cranial Sutures / growth & development* ...
Acrocephalosyndactylia / genetics * Brazil * Craniofacial Dysostosis / genetics * Craniosynostoses / genetics* * Exons * Female ...
Pfeiffer RA (1964). "Dominant erbliche Akrocephalosyndaktylie" [Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für ... acrocephalosyndactylia) that were inherited in an autosomal dominant pattern. In 1996, a son was born to American musician ...
acrocephalosyndactylia. proximal symphalangism. *symphalangism, proximal, 1a. - elite association - COSMIC cancer census ...
... that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and ...
Categories: Acrocephalosyndactylia Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Acrocephalosyndactylia (Apert Syndrome) 08/01/2010 - "The changes in form characterized in this study will help to elucidate ...
acrocephalosyndactylia 12960. Apert syndrome Cross References. RefSeq. NP_001138391.1, NP_001138388.1, NP_001138385.1, NP_ ...
... that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and ...
TY - JOUR. T1 - Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis. AU - Martínez-Abadías, Neus. AU - Estivill, Roger Mateu. AU - Tomas, Jaume Sastre. AU - Perrine, Susan Motch. AU - Yoon, Melissa. AU - Robert-Moreno, Alexandre. AU - Swoger, Jim. AU - Russo, Lucia. AU - Kawasaki, Kazuhiko. AU - Richtsmeier, Joan. AU - Sharpe, James. PY - 2018/9. Y1 - 2018/9. N2 - The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene expression, which are hard to detect and can be obscured later in development by secondary effects. Here, we develop a method to trace back the origins of phenotypic abnormalities by accurately quantifying the 3D spatial distribution of gene expression domains in developing organs. By applying Geometric Morphometrics to 3D gene expression data obtained by Optical Projection ...
TY - JOUR. T1 - The pleiotropic effects of fibroblast growth factor receptors in mammalian development. AU - McIntosh, Iain. AU - Bellus, Gary A.. AU - Jabs, Ethylin Wang. PY - 2000/4. Y1 - 2000/4. N2 - In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex cellular processes. At least fifteen genetic disorders result from mutations within FGFR genes including skeletal dysplasias such as Apert syndrome and achondroplasia. In vitro experiments and the generation of animal models indicate that these mutations result in activation of the receptors and that FGFRs act as negative regulators of bone growth. FGFRs also play a role in wound healing and cancer. In this article, we review the expression of FGFRs in human development, the phenotypes resulting from FGFR mutations, and recent data identifying pathways downstream of the activated receptors.. AB - In recent years the study of ...
Research of Apert Syndrome With Polydactyly Of Hands And Feet has been linked to Acrocephalosyndactylia, Apert Syndrome, Cleft ...
Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a ... of cases arise by new mutation.The syndrome is named for the French physician who described the syndrome acrocephalosyndactylia ...
Acrocephalosyndactylia - also known as: - Apert Syndrome - Pfeiffer Syndrome - Saethre-Chotzen Syndrome - ...
Rare diseases are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Barbar, L., Jain, T., Zimmer, M., Kruglikov, I., Sadick, J. S., Wang, M., Kalpana, K., Rose, I. V. L., Burstein, S. R., Rusielewicz, T., Nijsure, M., Guttenplan, K. A., di Domenico, A., Croft, G., Zhang, B., Nobuta, H., Hébert, J. M., Liddelow, S. A. & Fossati, V., Aug 5 2020, In : Neuron. 107, 3, p. 436-453.e12. Research output: Contribution to journal › Article › peer-review ...
Mago, N., Srivastava, S., Shirwaikar, R. D., Acharya, U. D., Lewis, L. E. S. & Shivakumar, M., 01-01-2016, Proceedings of the 2016 2nd International Conference on Contemporary Computing and Informatics, IC3I 2016. Institute of Electrical and Electronics Engineers Inc., p. 693-697 5 p. 7918051. Research output: Chapter in Book/Report/Conference proceeding › Conference contribution ...
TY - JOUR. T1 - Alternative methods for nasotracheal intubation and extubation in a patient with Apert syndrome. AU - Tsukamoto, Masanori. AU - Yokoyama, Takeshi. PY - 2015/9/1. Y1 - 2015/9/1. N2 - Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management of a patient with Apert syndrome who underwent partial resection of mandible and cleft palate repair with nasotracheal intubation. Nasotracheal intubation using a gastric tube and extubation using an airway exchange catheter proved useful in this case of airway compromise.. AB - Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We ...
Van Bergen, N. J., Guo, Y., Rankin, J., Paczia, N., Becker-Kettern, J., Kremer, L. S., Pyle, A., Conrotte, J. F., Ellaway, C., Procopis, P., Prelog, K., Homfray, T., Baptista, J., Baple, E., Wakeling, M., Massey, S., Kay, D. P., Shukla, A., Girisha, K. M., Lewis, L. E. S. & 15 others, Santra, S., Power, R., Daubeney, P., Montoya, J., Ruiz-Pesini, E., Kovacs-Nagy, R., Pritsch, M., Ahting, U., Thorburn, D. R., Prokisch, H., Taylor, R. W., Christodoulou, J., Linster, C. L., Ellard, S. & Hakonarson, H., 01-01-2019, In : Brain : a journal of neurology. 142, 1, p. 50-58 9 p.. Research output: Contribution to journal › Article ...
Acrocephalosyndactylia. Acrodermatitis. Addison Disease. Adie Syndrome. Alagille Syndrome. Amylose. Amyotrophic Lateral ...
Wang, J., Wong, G. K-S., Ni, P., Han, Y., Huang, X., Zhang, J., Ye, C., Zhang, Y., Hu, J., Zhang, K., Xu, X., Cong, L., Lu, H., Ren, X., Ren, X., He, J., Tao, L., Passey, D. A., Wang, J., Yang, H. & 2 flere, Yu, J. & Li, S., 1. maj 2002, I : Genome Research. 12, 5, s. 824-31 7 s.. Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review ...
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Acrocephalosyndactylia 2 0 Bone Neoplasms 2 0 Colonic Neoplasms 2 0 Carcinoma, Renal Cell 2 0 ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Female , Humans , Male , Acrocephalosyndactylia/genetics , /genetics , Acrocephalosyndactylia/physiopathology , Exons , Gene ... Acrocephalosyndactylia/epidemiology , Acrocephalosyndactylia/genetics , Child , Cranial Sutures/abnormalities , ... Humans , Male , Child , Acrocephalosyndactylia/diagnosis , Acrocephalosyndactylia/genetics , Craniosynostoses/diagnosis , ... Acrocephalosyndactylia , Adult , Child , Exophthalmos , Forehead , Hand , Humans , Hypertelorism , Male , Maxilla , Nasal ...
Acrocephalosyndactylia. Acrodermatitis. Addison Disease. Adie Syndrome. Alagille Syndrome. Amylose. Amyotrophic Lateral ...
  • Acrocephalosyndactylia (or acrocephalosyndactyly ) is the common presentation of craniosynostosis and syndactyly . (wikipedia.org)
  • Research of Apert Syndrome With Polydactyly Of Hands And Feet has been linked to Acrocephalosyndactylia, Apert Syndrome, Cleft Palate, Polydactyly. (novusbio.com)
  • It may be associated with other anomalies, like craniofacial anomalies (cleft lip and/or cleft palate, optic atrophy, low set ears, acrocephalosyndactylia and facial bone anomalies), gastrointestinal anomalies, cardiovascular anomalies, skeletal anomalies, genitourinary anomalie. (jpgo.org)
  • Reproductive fitness is low, and more than 98% of cases arise by new mutation.The syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. (medscape.com)
  • 12 An acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull. (malacards.org)