Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)
Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
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).
Congenital anomaly of abnormally short fingers or toes.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Congenital or acquired asymmetry of the face.
Mandibulofacial dysostosis with congenital eyelid dermoids.
Studies in which variables relating to an individual or group of individuals are assessed over a period of time.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.
The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.
A fat-soluble riminophenazine dye used for the treatment of leprosy. It has been used investigationally in combination with other antimycobacterial drugs to treat Mycobacterium avium infections in AIDS patients. Clofazimine also has a marked anti-inflammatory effect and is given to control the leprosy reaction, erythema nodosum leprosum. (From AMA Drug Evaluations Annual, 1993, p1619)
The largest of the TARSAL BONES which is situated at the lower and back part of the FOOT, forming the HEEL.
Incorrect diagnoses after clinical examination or technical diagnostic procedures.
A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.
An acute, diffuse, and suppurative inflammation of loose connective tissue, particularly the deep subcutaneous tissues, and sometimes muscle, which is most commonly seen as a result of infection of a wound, ulcer, or other skin lesions.
Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes.
The continuous turnover of BONE MATRIX and mineral that involves first an increase in BONE RESORPTION (osteoclastic activity) and later, reactive BONE FORMATION (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium HOMEOSTASIS. An imbalance in the regulation of bone remodeling's two contrasting events, bone resorption and bone formation, results in many of the metabolic bone diseases, such as OSTEOPOROSIS.
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.
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.
A type of fibrous joint between bones of the head.
Congenital craniostenosis with syndactyly.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.
Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.
A collection of cloned peptides, or chemically synthesized peptides, frequently consisting of all possible combinations of amino acids making up an n-amino acid peptide.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Small cationic peptides that are an important component, in most species, of early innate and induced defenses against invading microbes. In animals they are found on mucosal surfaces, within phagocytic granules, and on the surface of the body. They are also found in insects and plants. Among others, this group includes the DEFENSINS, protegrins, tachyplesins, and thionins. They displace DIVALENT CATIONS from phosphate groups of MEMBRANE LIPIDS leading to disruption of the membrane.
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 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).
Persistent flexure or contracture of a joint.
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
A deformed foot in which the foot is plantarflexed, inverted and adducted.
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
A characteristic symptom complex.
The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.
Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
The anteriorly located rigid section of the PALATE.
A movable fold suspended from the posterior border of the hard palate. The uvula hangs from the middle of the lower border.
Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.
The practice of dentistry concerned with the dental problems of children, proper maintenance, and treatment. The dental care may include the services provided by dental specialists.
Congenital fissure of the soft and/or hard palate, due to faulty fusion.
Abnormally small jaw.
The book composed of writings generally accepted by Christians as inspired by God and of divine authority. (Webster, 3d ed)
Tumors or cancer of the THYROID GLAND.
Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.
An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)
A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR).
A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)
A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (Stedman, 25th ed)

Craniofacial sutures: morphology, growth, and in vivo masticatory strains. (1/66)

The growth and morphology of craniofacial sutures are thought to reflect their functional environment. However, little is known about in vivo sutural mechanics. The present study investigates the strains experienced by the internasal, nasofrontal, and anterior interfrontal sutures during masticatory activity in 4-6-month-old miniature swine (Sus scrofa). Measurements of the bony/fibrous arrangements and growth rates of these sutures were then examined in the context of their mechanical environment. Large tensile strains were measured in the interfrontal suture (1,036 microepsilon +/- 400 SD), whereas the posterior internasal suture was under moderate compression (-440 microepsilon +/- 238) and the nasofrontal suture experienced large compression (-1,583 microepsilon +/- 506). Sutural interdigitation was associated with compressive strain. The collagen fibers of the internasal and interfrontal sutures were clearly arranged to resist compression and tension, respectively, whereas those of the nasofrontal suture could not be readily characterized as either compression or tension resisting. The average linear rate of growth over a 1-week period at the nasofrontal suture (133.8 micrometer, +/- 50.9 S.D) was significantly greater than that of both the internasal and interfrontal sutures (39.2 micrometer +/- 11.4 and 65. 5 micrometer +/- 14.0, respectively). Histological observations suggest that the nasofrontal suture contains chondroid tissue, which may explain the unexpected combination of high compressive loading and rapid growth in this suture.  (+info)

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (2/66)

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)

Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. (3/66)

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)

New surgical concepts resulting from cranio-orbito-facial surgery. (4/66)

The authors have defined the subspecialty of craniofacial surgery and described the organization of the multi-disciplinary team required to care for such patients. Common features of the craniofacial patient have been summarized and three major categories of patients have been proposed. These are: I. Syndromes associated with hypertelorism; II. Syndromes associated with premature synostoses or growth arrests; III. Syndromes associated with primarily mid- and lower face anomalies. Growing out of an experience with 242 operations on 106 patients, the authors have listed 9 relatively new surgical "principles." Each has led to a current surgical approach that is now being employed by the craniofacial team at The University of Virginia. A number of examples are given to show ways in which the lessons learned from the craniofacial patients are now being applied, with improved results, to patients with neoplasms, traumatic injuries, or other conditions.  (+info)

Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. (5/66)

BACKGROUND AND PURPOSE: Jugular foraminal stenosis (JFS) or atresia (JFA) with collateral emissary veins (EV) has been documented in syndromic craniosynostosis. Disruption of EV during surgery can produce massive hemorrhage. Our purpose was to describe the prevalence of prominent basal emissary foramina (EF), which transmit enlarged EV, in syndromic craniosynostosis. Our findings were correlated with phenotypic and molecular diagnoses. METHODS: We reviewed the medical records and imaging examinations of 33 patients with syndromic craniosynostosis and known fibroblast growth factor receptor (FGFR) mutations. All patients underwent CT and 14 MR imaging. The cranial base was assessed for size of occipitomastoid EF and jugular foramina (JF). Vascular imaging studies were available from 12 patients. A control group (n = 76) was used to establish normal size criteria for JF and EF. RESULTS: Phenotypic classification included Crouzon syndrome (n = 10), crouzonoid features with acanthosis nigricans (n = 3), Apert syndrome (n = 10), Pfeiffer syndrome (n = 4), and clinically unclassifiable bilateral coronal synostosis (n = 6). EF > or = 3 mm in diameter and JFS or JFA were identified in 23 patients with various molecular diagnoses. Vascular imaging in patients with JFS or JFA and enlarged EF revealed atresia or stenosis of the jugular veins and enlarged basal EV. JFA was seen in all patients with the FGFR3 mutation with crouzonoid features and acanthosis nigricans. Four patients had prominent EF without JFS. Six patients had normal JF and lacked enlarged EF. CONCLUSION: Enlarged basal EF are common in syndromic craniosynostosis and are usually associated with JFS or JFA. Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations. Skull base vascular imaging should be obtained in patients with syndromic craniosynostosis with enlarged EF.  (+info)

Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis. (6/66)

The complex and largely obscure regulatory processes that underlie ossification and fusion of the sutures during skull morphogenesis are dependent on the conditions of the extracellular microenvironment. The concept that growth factors are involved in the pathophysiology of craniosynostosis due to premature fusion of skull bone sutures, is supported by recent genetic data. Crouzon and Apert syndromes, for example, are characterized by point mutations in the extracellular or transmembrane domains of fibroblast growth factor-2 receptor. In primary cultures of periosteal fibroblasts and osteoblasts obtained from Apert and Crouzon patients, we observed that Crouzon and Apert cells behaved differently with respect to normal cells as regards the expression of cytokines and extracellular matrix (ECM) macromolecule accumulation. Further modulation of ECM components observed after the addition of cytokines provides support for an autocrine involvement of these cytokines in Crouzon and Apert phenotype. Changes in ECM composition could explain the altered osteogenic process and account for pathological variations in cranial development. We suggest that a correlation exists between in vitro phenotype, clinical features and genotype in the two craniosynostotic syndromes. New research into signal transduction pathways should establish further connections between the mutated genotype and the molecular biology of the cellular phenotype.  (+info)

The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. (7/66)

A case of Binder syndrome was diagnosed at 21 weeks of gestation using two-dimensional and three-dimensional ultrasound. The first indication of any abnormality was a flattened fetal nose demonstrated in the mid-sagittal plane. Further ultrasound imaging showed the virtual absence of the naso-frontal angle, giving the impression of a flat forehead and small fetal nose. Suspected mild hypertelorism was also seen using transverse and coronal planes. Differential diagnosis of this condition is discussed.  (+info)

Stenosis of the cervical canal in craniodiaphyseal dysplasia. (8/66)

Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.  (+info)

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence. ...
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. This syndrome is named after Octave Crouzon, a French physician who first described this disorder. He noted the affected patients were a mother and her daughter, implying a genetic basis. First called craniofacial dysostosis, the disorder was characterized by a number of clinical features. This syndrome is caused by a mutation in the fibroblast growth factor receptor II, located on chromosome 10. Breaking down the name, craniofacial refers to the skull and face, and dysostosis refers to malformation of bone. Now known as Crouzon syndrome, the characteristics can be described by the rudimentary meanings of its ...
Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities.
Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the transduction pathways for mitogenesis, cellular differentiation and embryogenesis. We now report an FGFR2 mutation in the conserved region of the immunoglobulin Illc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. In addition, in four of 12 Crouzon syndrome cases, we identified two new mutations and found two previously described mutations in the same region.
Source:http://linkedlifedata.com/resource/umls/id/C0010273 MSH: Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.,CSP: autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.,NCI: A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. ...
Homo sapiens fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) (FGFR2), transcript variant 1, mRNA. (H00002263-R40) - Products - Abnova
Pathophysiology: Crouzon syndrome is caused by mutations in the fibroblast growth factor receptor-2 (FGFR2) gene but exhibits locus heterogeneity with causal mutations in FGFR2 and FGFR3 in different affected individuals. Premature synostosis of the coronal, the sagittal, and, occasionally, the lambdoidal sutures begins in the first year of life and is completed by the second or third year. The order and rate of suture fusion determine the degree of deformity and disability. Once a suture becomes fused, growth perpendicular to that suture becomes restricted, and the fused bones act as a single bony structure. Compensatory growth occurs at the remaining open sutures to allow continued brain growth. However, multiple sutural synostoses frequently extend to premature fusion of the skull base sutures, causing midfacial hypoplasia, shallow orbits, a foreshortened nasal dorsum, maxillary hypoplasia, and occasional upper airway obstruction ...
Crouzon syndrome is a rare genetic condition marked by the early fusion of skull bones (craniosynostosis) which prevents the skull from growing normally.
Families come to Boston Childrens from around the globe for accurate diagnosis and world-renowned surgical care of complex conditions like Crouzon syndrome.
Matthew underwent facial reconstruction surgery to correct malformations caused by Crouzon syndrome. Dr. Albert Woo, who directs the plastic surgery team at St. Louis Childrens Hospital, performed the surgery, which he says is one of the more complex craniofacial procedures one can do.. ...
Crouzon syndrome is an autosomal dominant, rare genetic disorder often demonstrating complete penetrance and variable expressivity. It is frequently associated with cervical vertebrae abnormalities which often remain undetected. This article reports the case of an incidental finding of cervical vertebral anomaly of atlanto-occipital assimilation in an 8.5 year old boy who reported with chief complaint…
The KATO-III cell-derived stomach cancer amplified (K-sam) gene was identified initially as a gene amplified and overexpressed in poorly differentiated human stomach cancers. It is now known as fibroblast growth factor receptor 2 (FGFR2). It is also known as bacteria-expressed kinase (BEK), keratinocyte growth factor receptor (KGFR), Jackson-Weiss syndrome (JWS), craniofacial dysostosis 1 (CFD1), BBDS, CEK3, ECT1, TK14, TK25, BFR-1, and CD332. The FGFR2 gene encodes two alternatively spliced isoforms, FGFR2b (expressed in epithelial cells) and FGFR2c (expressed in mesenchymal cells). The extracellular portions of FGFR2b and FGFR2c interact with fibroblast growth factors, activating a cascade of downstream signals that regulate mitogenesis and differentiation. FGFR2 plays an essential role in osteoblast differentiation, proliferation, and apoptosis, and is required for normal skeletal development. Gene amplification or missense mutations of the FGFR2 gene result in aberrant signaling, and are ...
The KATO-III cell-derived stomach cancer amplified (K-sam) gene was identified initially as a gene amplified and overexpressed in poorly differentiated human stomach cancers. It is now known as fibroblast growth factor receptor 2 (FGFR2). It is also known as bacteria-expressed kinase (BEK), keratinocyte growth factor receptor (KGFR), Jackson-Weiss syndrome (JWS), craniofacial dysostosis 1 (CFD1), BBDS, CEK3, ECT1, TK14, TK25, BFR-1, and CD332. The FGFR2 gene encodes two alternatively spliced isoforms, FGFR2b (expressed in epithelial cells) and FGFR2c (expressed in mesenchymal cells). The extracellular portions of FGFR2b and FGFR2c interact with fibroblast growth factors, activating a cascade of downstream signals that regulate mitogenesis and differentiation. FGFR2 plays an essential role in osteoblast differentiation, proliferation, and apoptosis, and is required for normal skeletal development. Gene amplification or missense mutations of the FGFR2 gene result in aberrant signaling, and are ...
Define Crouzon disease. Crouzon disease synonyms, Crouzon disease pronunciation, Crouzon disease translation, English dictionary definition of Crouzon disease. n. 1. An abnormal condition of a part, organ, or system of an organism resulting from various causes, such as infection, inflammation, environmental...
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 74~473-493(1987) Comparative Study of Normal, Crouzon, and Apert Craniofacial Morphology Using Finite Element Scaling Analysis JOAN T.RICHTSMEIER Department of Cell Biology and Anatomy, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 KEY WORDS Apert syndrome, Crouzon syndrome, Shape, Size ABSTRACT Finite element scaling analysis is used to study differences in morphology between the craniofacial complex of normal individuals and those affected with the syndromes of Apert and Crouzon. Finite element scaling quantifies the differences in shape and size between forms without reference to any fixed, arbitrary registration point or orientation line and measures the amount of form change required to deform one object into another. Twodimensional coordinates of landmarks digitized from annual sets of cephalometric radiographs were used in the analysis. A simple tabulation shows no difference in variances between the normal and ...
Looking for Crouzon's disease? Find out information about Crouzon's disease. Defective formation of bone Explanation of Crouzon's disease
The premise of Ride High Pineapple had been in Jennys heart for many years as there were no books around with the teenage main character with a craniofacial syndrome, but it was after leaving teaching in 2014 the right time to write presented itself.. To raise awareness, my character thirteen-year-old Issy Burgess has Crouzon syndrome. Issy is fictitious but based on some of my own and my daughters experiences, Jenny says.. Ride High Pineapple also explores other contemporary issues of anxiety, friendships, social media, young love and sport. It is raw, honest and gutsy. The novel is aimed at children aged nine to14 years. The Childrens Craniofacial Association in the USA have written the foreword and endorsed it.. The nature of this book means that it will help any child or teenager who is bullied for how they look, Jenny says. I hope the story will give strategies for self-empowerment and self-belief.. You can connect with Jenny on her website and Ride High Pineapple is available on ...
This resource provides mouse models for facial, dental, eye, ear and skull development research, as well as mouse models of human craniofacial syndromes. ...
Jason H. Pomerantz, M.D., a plastic surgeon, falls into the regeneration camp. His clinical work is typified by a recent eight-hour operation on a 17-year-old boy with Crouzon syndrome, a severely disfiguring condition affecting every organ in the craniofacial structure - muscle, bone, and skin. My patient is excited for the outcome, but not about the process, says Pomerantz, surgical director of the UCSF Craniofacial Center. For three months, the patient will wear a large metal frame on his head with wires that will pull the bones in his face forward. Prior to the surgery, the boys face was nearly concave, collapsed inward at the nose.. Yet bone is not all Pomerantz needs to work with to restructure a face. The subtle bends, creases, and curves of expression that make a face ones own are the work of tiny muscles. Right now we can move a big muscle - say, from the thigh to the face - so that people can smile, he says. But we cant reconstruct the fine ones that enable people to move their ...
Although the skull shape and facial fea- tures ofthese patients may resemble those ofpatients with Crouzon syndrome, the former display an often extreme amount of syndactyly, causing all the digits (hands and feet) to be completely fused. 5.
Because fetal anti-gens often do not respond to oral supplementation. Thioguanine versus mercaptopurine in childhood is defined as a result of excess fluid volume, treatment diet and lifestyle symptoms can be brought up to a fatty acid ffa monoglyceride mng . _ch . am page chapter cancer physical cues that control activity of. Treat underlying illness, such as that volume expansion in this chapter. Warfarin should not be used instead of. Nydegger a childhood pancreatitis. Onset of symptoms is associ-ated with poor airway positioning. Because of adenosines extremely short half-life of bradykinin are increased by brief alcohol screening tests most rely on altering cerebral blood flow. In the absence of effect of radiation therapy to facilitate endotracheal intubation, thus. Impact of hiv/aids on care and repeated as often as a nonsighted person if ig is given on daysand or. Crouzon syndrome is most often in the transport environment because ambient noise may exceed mg/dl, with most cases no ...
The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Using mouse models for craniosynostosis conditions, our group has precisely defined how unique craniosynostosis causing mutations in fibroblast growth factor receptors affect brain and skull morphology and dysgenesis involving coordinated tissue-specific effects of these mutations. Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and
Looking for online definition of Crouzon in the Medical Dictionary? Crouzon explanation free. What is Crouzon? Meaning of Crouzon medical term. What does Crouzon mean?
Patients at the NJ Craniofacial Center of Morristown benefit from the multidisciplinary expertise of surgical and medical pediatric specialists who share a commitment to using new technology and medical advances for patients and education and support for their families. We offer specialized programs in patients with moderate to severe craniofacial disorders and also mild craniofacial disorders, plagiocephaly and/ or torticollis.. At our Comprehensive Team Meeting, all members of the craniofacial team meet to evaluate a child with moderate to severe craniofacial disorders. We are proud to have a Pediatric Psychologist as part of our team. The craniofacial teams psychologist will assess your childs development and will offer support and treatment to both you and your child. As your child ages, craniofacial disorders will have a varying impact on his or her life as well as the life of your family. For younger children, our psychologist will assess your childs developmental level, refer you for ...
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. Some of the signs and symptoms of Crouzonodermoskeletal syndrome are similar to those seen with Crouzon syndrome. They include prematurely fused skull bones, which affect the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper jaw. People with these conditions are generally of normal intelligence. Several features distinguish Crouzonodermoskeletal syndrome from Crouzon syndrome. People with Crouzonodermoskeletal syndrome have acanthosis nigricans, a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. In addition, subtle changes may be seen in the bones of the spine (vertebrae). Noncancerous growths ...
PFEIFFER SYNDROME TYPE 2 description, symptoms and related genes. Get the complete information in our medical search engine for phenotype-genotype rel
Next, we compared the predicted impact of extorsion of the rectus muscle pulleys on binocular eye alignment with the clinical measurement in three patients. The location of each rectus muscle pulley was shifted both vertically and horizontally in the ocular simulator software (Eidactics) by an amount quantified by analysis of the corresponding CT images. Eye alignment for patients with 0 to 2°, 20°, and 32° of extorsion of the rectus muscle pulleys are shown as Hess-Lancaster-type plots in Figure 4. Eye position predicted by the ocular simulator software (Eidactics) in central gaze and at eccentricities of 30° upgaze, downgaze, right gaze, and left gaze in 2.5 mm intervals is indicated by the circles. Eye position determined from clinical examination in central gaze and at eccentricities of 30° downgaze and 30° upgaze is represented by the pluses (+). Figure 4A shows the horizontal and vertical eye position in a patient without extorsion of the pulleys. The model predicted normal eye ...
There are patterns of unusual facial features that occur in recognizable syndromes. Some of these craniofacial syndromes are genetic, others are from unknown causes. In many craniofacial syndromes, the features that are unusual involve the nose, mouth, and jaw, or resting muscle tone, and put the individual at risk for OSA syndrome. Down syndrome is one such syndrome. In this chromosomal abnormality, several features combine to make the presence of obstructive sleep apnea more likely. The specific features of Down syndrome that predispose to obstructive sleep apnea include relatively low muscle tone, narrow nasopharynx, and large tongue. Obesity and enlarged tonsils and adenoids, conditions that occur commonly in the western population, are much more likely to be obstructive in a person with these features than without them. Obstructive sleep apnea does occur even more frequently in people with Down syndrome than in the general population. A little over 50% of all people with Down syndrome ...
Long-term anthropometric follow-up of cranial vault growth may considerably add valuable information to current literature focusing on treatment strategies for premature multiple-suture craniosynostosis. The aim of this paper was to compare postoperative growth patterns of nonsyndromic and syndromic multiple-suture craniosynostotic children with sex-matched and age-matched children from the typically developing population. Forty-one multiple-suture craniosynostotic patients (19 nonsyndromic and 22 syndromic) were included in this 5-year follow-up. Anthropological data of sex-matched and age-matched normal Swiss children served as a control. A standardized time protocol for anthropometric skull measurements (head circumference and cephalic index) was used. Data were converted into Z-scores for standardized intercenter comparison. All patients showed a marked benefit in cranial vault shape after open skull remodeling. Significant differences in long-term cranial vault growth pattern could be seen ...
The All Childrens Hospital craniofacial and craniomaxillofacial surgery teams care for children with problems that affect the head and syndromes that involve the anatomy of the face and skull.
V. 1: Radiation bioeffects, risks, and radiation protection in medical imaging in children -- Complications of contrast media -- Magnetic resonance safety -- Embryology, anatomy, normal findings, and imaging techniques -- Prenatal, congenital, and neonatal abnormalities -- Orbit infection and inflammation -- Orbital neoplasia -- Nose and sinonasal cavities -- Embryology, anatomy, normal findings, and imaging techniques -- Congenital and neonatal abnormalities -- Infection and inflammation -- Neoplasia -- Embryology, anatomy, normal findings, and imaging techniques -- Prenatal, congenital, and neonatal abnormalities -- Infection and inflammation -- Neoplasia -- Thyroid and parathyroid -- Embryology, anatomy, normal findings, and imaging techniques -- Prenatal imaging -- Craniosynostosis, selected craniofacial syndromes, and other abnormalities of the skull -- Neoplasms, neoplasms-like lesions, and infections of the skull -- The mandible -- Traumatic lesions of the skull and face -- Embryology and ...
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 ...
Judy Mosher is the patient coordinator for the Craniofacial Center at Dayton Childrens. She specializes in craniofacial syndromes, research craniofacial genetics, advocacy, networking and hosting annual retreats for syndromic families. She is also the cofounder of the Treacher Collins Network.
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/ ...
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 ...
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.
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.
Trying to choose a North Carolina college? Explore one of the most beautiful college campuses, Pfeiffer University Misenheimer campus.
Would you like to work in the health and fitness field? Prepare for exercise science jobs with an exercise science degree from Pfeiffer.
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 ...
Homo sapiens fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant 1, mRNA. (H00002260-R28) - Products - Abnova
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 ...
This Histri was built automatically but not manually verified. As a consequence, the Histri can be incomplete or can contain errors ...
Heya. Im new to disc healing, and when I tried to make a specc of my own I came up with this: http://www.wowhead.com/?talent=bVcbuhxtMxoifRtfxzc However, when I read guides, and such, everyone seemed to reccomend this: http://www.wowhead.com/?talent=bVcbuhxtMxoifRt0xtc Im using renew a lot more than Im using greater heal, so I dont see the point in getting Divine Fury. Is renew a bad choice of spell as disc or is my specc viable?
Paper Discussed: Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW; EYE-RISK consortium; European Eye Epidemiology (E3) consortium ...
by Alcalay, R.N and Caccappolo, E and Mejia-Santana, H and Tang, M.-X and Rosado, L and Reilly, M. Orbe and Ruiz, D and Ross, B and Verbitsky, M and Kisselev, S and Louis, E and Comella, C and Colcher, A and Jennings, D and Nance, M and Bressman, S and Scott, W.K and Tanner, C and Mickel, S and Andrews, H and Waters, C and Fahn, S and Cote, L and Frucht, S and Ford, B and Rezak, M and Novak, K and Friedman, J.H and Pfeiffer, R and Marsh, L and Hiner, B and Siderowf, A and Payami, H and Molho, E and Factor, S and Ottman, R and Clark, L.N and Marder, K ...
LIKE A CATWOMAN ON A HOT TIN ROOF, MICHELLE Pfeiffer is sizzling this summer. As the slinky, kinky, whip-snapping, wisecracking…
I did pretty well over this 3-day weekend. I got my house clean (at least on the main floor, we shall not speak of the state of my bedroom). I lounged around, I went out with friends, and I knit till my hands were sore. So, I guess I feel like I had a pretty balanced weekend overall. A little responsibility, a little lazyness, a little fun. However, my food intake was way out of balance and I paid for it last night. My stomach was bothering me and I couldnt sleep. So, despite a pretty okay weekend, Im not any more rested!. I finished the second half of Pfeiffer Falls and after many (many many) false starts, I managed to graft the two pieces together. Because I didnt do the pockets, I missed the directions that said to bind off one stitch on each side after finishing the pocket, and I just decided to ignore it and keep going the way I was. Well, this was fine, except that the directions for grafting in pattern were written for two less stitches than what I had on the needles. It took me a few ...
Wieczorek, Matthias; Frikel, Jürgen; Vogel, Jakob; Eggl, Elena; Kopp, Felix; Noël, Peter B.; Pfeiffer, Franz; Demaret, Laurent; Lasser, Tobias ...
High blood glucose and diabetes are amongst the conditions causing the greatest losses in years of healthy life worldwide. Therefore, numerous studies aim to identify reliable risk markers for development of i... Authors: Manuela Hische, Abdelhalim Larhlimi, Franziska Schwarz, Antje Fischer-Rosinský, Thomas Bobbert, Anke Assmann, Gareth S Catchpole, Andreas FH Pfeiffer, Lothar Willmitzer, Joachim Selbig and Joachim Spranger. ...
Icon alpha-blending has taken some big steps forward today. First, Antonio Larrosa introduced alpha blending to the HEAD branch in CVS. Heres a screenshot showing one icon blended into another. A few hours later, Carsten Pfeiffer shot back with this tasty screenshot of Konqueror previewing text files with the mimetype icon blended in. Oh, I cant wait for 2.1 -- time to hit
High blood glucose and diabetes are amongst the conditions causing the greatest losses in years of healthy life worldwide. Therefore, numerous studies aim to identify reliable risk markers for development of i... Authors: Manuela Hische, Abdelhalim Larhlimi, Franziska Schwarz, Antje Fischer-Rosinský, Thomas Bobbert, Anke Assmann, Gareth S Catchpole, Andreas FH Pfeiffer, Lothar Willmitzer, Joachim Selbig and Joachim Spranger. ...
sfcrazy (1542989) writes KDE Software is often criticized for being too complicated for an average user to use. Try setting up Kmail and you would know what I mean. The KDE developers are aware of it and now they are working on making KDE UI simpler. KDE usability team lead Thomas Pfeiffer Thomas p...
Garibaldis response was to use steroids, and his parents and his psychiatrist say it was the extensive use of those drugs that led the once- vibrant young man down an increasingly troubled path that ended in a derailed baseball career, depression and months of emotional turmoil before he ultimately committed suicide at the age of 24. The Chronicle reported this month on the grand jury testimony of two baseball stars who were among the most prominent clients of BALCO, the Burlingame laboratory at the center of the sports doping scandal. Bonds, who set baseballs single season home run record with 73 in 2001 and has publicly denied using steroids, told the grand jury that he used a clear substance and a cream provided by a friend who is now accused of distributing BALCO drugs, but that he never thought they were steroids. New York Yankees slugger Jason Giambi testified that he used steroids and also injected human growth hormone. After The Chronicle reported on the testimony, U.S. Surgeon General
Crouzon was the first to describe a condition he called "craniofacial dysostosis", defined as a genetic branchial arch disorder ...
"A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and ...
... craniofacial dysostosis MeSH C05.116.099.370.231.427 - Hallermann's syndrome MeSH C05.116.099.370.231.480 - hypertelorism MeSH ... craniofacial dysostosis MeSH C05.660.207.231.427 - Hallermann's syndrome MeSH C05.660.207.231.480 - hypertelorism MeSH C05.660. ... 207.231.576 - mandibulofacial dysostosis MeSH C05.660.207.231.576.410 - Goldenhar syndrome MeSH C05.660.207.240 - ... C05.116.099.370.231.576 - mandibulofacial dysostosis MeSH C05.116.099.370.231.576.410 - goldenhar syndrome MeSH C05.116.099.370 ...
... craniofacial dysostosis or crouzon syndrome Marshall halls facies - hydrocephalus Frog face - intranasal disease Coarse facies ... Lion-like facies - involvement of craniofacial bones in Paget disease of Bone Chipmunk facies - beta thalassemia Pitt-Hopkins ... this causes craniofacial protrusions. Body habitus "Definition of FACIES". www.merriam-webster.com. Retrieved 4 February 2021 ...
... dysplasia First and second branchial arch syndrome Oral-mandibular-auricular syndrome Otomandibular dysostosis Craniofacial ... "Hemifacial Microsomia , Cosmetic Surgery in India , Balaji Dental". Balaji Dental and Craniofacial Hospital, Chennai, India. 17 ... "Hemifacial Microsomia" at the Tennessee Craniofacial Center. Accessed 20 January 2008. ^ "Hemifacial Microsomia" at the ... GeneReviews/NCBI/NIH/UW entry on Craniofacial Microsomia Overview. ...
... craniofacial dysostosis MeSH C16.131.621.207.231.427 - Hallermann's syndrome MeSH C16.131.621.207.231.480 - hypertelorism MeSH ... craniofacial abnormalities MeSH C16.131.621.207.207 - cleidocranial dysplasia MeSH C16.131.621.207.231 - ... C16.131.621.207.231.576 - mandibulofacial dysostosis MeSH C16.131.621.207.231.576.410 - goldenhar syndrome MeSH C16.131.621.207 ...
Craniofacial surgery may be necessary to correct skull defects. Coxa vara is treated by corrective femoral osteotomies. If ... Cleidocranial dysostosis affects about one per million people. In 1987, a young girl named Jessica McClure fell down a narrow ... Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth ... Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which ...
"Otologic and audiologic features of Nager acrofacial dysostosis". International Journal of Pediatric Otorhinolaryngology. 69 (8 ... Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural ... Cleft Palate-Craniofacial Journal Online for scholarly, peer-reviewed articles on topics related to clefting.. ... "The World Craniofacial Foundation: Dedicated to helping children and families who experience deformities of the head and/or ...
Craniofacial dysostosis:. *Crouzon syndrome. *Hypertelorism. *Hallermann-Streiff syndrome. *Treacher Collins syndrome. other:. ...
Craniofacial dysostosis:. *Crouzon syndrome. *Hypertelorism. *Hallermann-Streiff syndrome. *Treacher Collins syndrome. other:. ...
Craniofacial dysostosis:. *Crouzon syndrome. *Hypertelorism. *Hallermann-Streiff syndrome. *Treacher Collins syndrome. other:. ...
Congenital craniofacial differences are conditions affecting the head and face that present at or shortly after birth such as ... aka mandibulofacial dysostosis). Traumatic facial injuries include orbital (eye socket) fracture, mandible (jaw) fracture, ... After development of formal maxillofacial training programs and later the birth of the field of craniofacial surgery, the scope ... is a professional organization focused on the science and practice of surgery of the facial region and craniofacial skeleton. ...
Nager syndrome shares many characteristics with five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, ... Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following ... "OMIM Entry - # 154400 - ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1". omim.org. Retrieved 19 August 2017. Rapini, Ronald P.; ... see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be ...
"Headlines Craniofacial Support" (PDF). Retrieved November 27, 2012. "Surgical Options for Craniosynostosis". Johns Hopkins ... and Mild Syndactyly ACS3 ACS III Chotzen Syndrome Dysostosis craniofacialis with hypertelorism SCS Blanchford, Stacey L (2002 ... "Saethre-Chotzen Syndrome". International Craniofacial Institute. Retrieved Oct 28, 2012. Clauser L, Galie M. "Saethre-Chotzen ...
The term mandibulofacial dysostosis is used to describe the clinical features. A July 1977 New York Times article that was ... These cells play an important role in the development of the craniofacial appearance, and loss of one copy of treacle affects ... Ultrasonography can be used to detect craniofacial abnormalities later in pregnancy, but may not detect milder cases. TCS is ... First arch syndrome Franceschetti-Klein syndrome Hearing loss with craniofacial syndromes Rapini, Ronald P.; Bolognia, Jean L ...
DeLone, D. R.; Brown, W. D.; Gentry, L. R. (November 1999). "Proteus syndrome: craniofacial and cerebral MRI". Neuroradiology. ... This type of condition usually happens as part of systemic diseases such as Hemifacial microsomia, Mandibulofacial Dysostosis, ... Condylar hyperplasia Craniofacial team Distraction osteogenesis Hemifacial microsomia Shivhare, Peeyush; Shankarnarayan, Lata; ... Journal of Craniofacial Surgery. 16 (3): 489-492. doi:10.1097/01.SCS.0000147655.94656.0D. ISSN 1049-2275. PMID 15915123. Canger ...
The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other ... is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in ... Genée E (1969). "Une forme de dysostose mandibulo-faciale" [A form of mandibulo-facial dysostosis]. J. De Génét. Humaine (in ... Miller M, Fineman R, Smith DW (December 1979). "Postaxial acrofacial dysostosis syndrome". The Journal of Pediatrics. 95 (6): ...
... may be seen in a multitude of syndromic conditions such as: Cleft lip/palate, Craniofacial Dysplasia, Gardner ... Hypodontia is seen in a number of disorders, including Gardner's syndrome and cleidocranial dysostosis, where multiple ...
Long-term surgical outcome for craniofacial deformities of patients with craniofrontonasal dysplasia with proven EFNB1 ... Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked ... and is important for skeletal and craniofacial development. As the ephrin receptor and its EFNB1 ligand are both bound to the ( ...
About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb ... The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome (TCS)/mandibulofacial dysostosis ( ...
... atrophy ophthalmoplegia pyramidal syndrome Spinal cord disorder Spinal cord injury Spinal cord neoplasm Spinal dysostosis type ... deafness neutrophil dysfunction Short stature dysmorphic face pelvic scapula dysplasia Short stature heart defect craniofacial ... Scabies Scab Face SCAD deficiency Scalp defects postaxial polydactyly Scalp-ear-nipple syndrome Scapuloiliac dysostosis ... flexure syndrome Splenogonadal fusion limb defects micrognatia Splenomegaly Split hand deformity mandibulofacial dysostosis ...
Dysostosis acral with facial and genital abnormalities Dysostosis peripheral Dysostosis Stanescu type Dysostosis Dyspareunia ... Deafness conductive stapedial ear malformation facial palsy Deafness congenital onychodystrophy recessive Deafness craniofacial ...
Harlequin syndrome Harris platelet syndrome Harrison syndrome Havana syndrome Hay-Wells syndrome Hearing loss with craniofacial ... Müllerian agenesis Nablus mask-like facial syndrome Naegeli-Franceschetti-Jadassohn syndrome Nager acrofacial dysostosis Nail- ...
Some systemic disorders which may result in hyperdontia include Apert syndrome, cleidocranial dysostosis, Crouzon syndrome, ... The Cleft Palate-Craniofacial Journal. 45 (2): 154-162. doi:10.1597/06-218.1. PMID 18333651. S2CID 23991279. "Dental Crowding: ... The Cleft Palate-Craniofacial Journal. 47 (4): 413-420. doi:10.1597/08-275.1. PMID 20590463. S2CID 7220626. Amelogenesis ...
Craniofacial bone abnormalities and malocclusion in individuals with sickle cell anemia: a critical review of the literature. ... Cleidocranial dysostosis. *Crouzon syndrome. *Hurler syndrome. *Pfeiffer syndrome. *Rubinstein-Taybi syndrome. *Russell-Silver ...
Trimethadione taken during pregnancy is responsible for the fetal trimethadione syndrome, characterized by craniofacial, ... and cleidocranial dysostosis. ...
CRANIOFACIAL DYSOSTOSIS: CROUZONS DISEASE Message Subject (Your Name) has sent you a message from American Academy of ... CRANIOFACIAL DYSOSTOSIS: CROUZONS DISEASE. Henry W. Dodge, Matthew W. Wood and Roger L. J. Kennedy ...
Craniofacial Dysostosis Source:http://linkedlifedata.com/resource/umls/id/C0010273 MSH: Autosomal dominant CRANIOSYNOSTOSIS ...
Disorders Panel Is ideal for patients with a clinical suspicion of Treacher-Collins syndrome or other craniofacial dysostosis. ... About Facial Dysostosis and Related Disorders Facial dysostoses are a group of congenital craniofacial anomalies caused by ... Is ideal for patients with a clinical suspicion of Treacher-Collins syndrome or other craniofacial dysostosis. ... Blueprint Genetics / Tests / Panels / Malformations / Facial Dysostosis and Re.... Facial Dysostosis and Related Disorders ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Craniofacial dysostosis with ... It is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal ... PubMed is a searchable database of medical literature and lists journal articles that discuss Craniofacial dysostosis with ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Craniofacial dysostosis ... Craniofacial dysostosis arthrogryposis progeroid appearence Title Other Names:. Van Biervliet Hendrickx Van Ertbruggen syndrome ...
craniofacial dysostosis. *craniofacial dysostosis syndrome. *craniofacial dysostosis type 1. *Crouzon craniofacial dysostosis ...
A family with craniofacial dysostosis affecting a father and his monozygotic twin sons is described. The father had no surgery ...
Crouzon syndrome (craniofacial dysostosis). In: Smiths Recognizable Patterns of Human Malformation. 7th ed. Elsevier Saunders ... Crouzon syndrome, also known as craniofacial dysostosis, is primarily characterized by premature closure of the fibrous joints ... craniofacial asymmetry). Additional craniofacial malformations may include underdevelopment of midfacial regions (midface ... Affected children should be seen at craniofacial clinics, which are often affiliated with major pediatric hospitals or medical ...
Craniofacial Abnormalities. Arthrogryposis. Craniofacial Dysostosis. Pathologic Processes. Mood Disorders. Mental Disorders. ... Arthrogryposis Craniofacial Abnormalities Posttraumatic Stress Disorder Depressive Disorder Other: PTSD Checklist-Specific ... craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve ... both limb and craniofacial deformities in an intellectually capable individual.. There have been no studies looking at quality ...
Craniofacial Abnormalities. Arthrogryposis. Craniofacial Dysostosis. Syndrome. Disease. Pathologic Processes. Congenital ... Freeman-Sheldon syndrome Craniofacial Type Patients who have only the face and skull physical findings required by the ... Craniofacial Abnormalities Arthrogryposis Other: PTSD Checklist-Civilian (PCL-C) Other: Modified Flanagan Quality of Life Scale ... one-third will be meet the craniofacial stipulates of the Stevenson criteria, with or without additional malformations, and ...
Mandibulofacial Dysostosis. Craniofacial Dysostosis. Dysostoses. Bone Diseases, Developmental. Bone Diseases. Musculoskeletal ... Children with Craniofacial Microsomia 125 children with craniofacial microsomia will be asked to come in for two study visits ... Parents of Children with Craniofacial Microsomia 125-250 parents of children with craniofacial microsomia will be asked to ... Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) (CLOCK). The safety and scientific validity ...
Craniofacial dysostosis *Language acquisition *Language acquisition--Computer-assisted learning *Language acquisition--Testing ... Subseries II, Craniofacial Anomalies, contains materials connected to Landahls work at the Center for Craniofacial Anomalies ... Center for Craniofacial Anomalies - Patient data, correspondence, and signed permission forms for audio recording of underage ... Craniofacial Anomalies and the Evolution of Human Speech - Typescript with edits, undated ...
Early craniectomies for craniofacial dysostosis. Converse JM, McCarthy J, Wood-Smith D, eds. Symposium on diagnosis and ... Spring mediated dynamic craniofacial reshaping. Case report. Scand J Plast Reconstr Surg Hand Surg. 1998 Sep. 32(3):331-8. [ ... Tessier P. Craniofacial surgery in syndromic craniosynostosis. In: Cohen MM, ed. Craniosynostosis: Diagnosis, Evaluation, and ... Frank S Ciminello, MD Director of Craniofacial Surgery, University Hospital, New Jersey Medical School. Frank S Ciminello, MD ...
Craniofacial Dysostosis / genetics * Craniosynostoses / genetics* * Exons * Female * Genes, Dominant * Humans * Male * ...
7. Craniofacial dysostosis type 1. 8. Cushings syndrome. 9. Dandruff. 10. Diabetes. More causes » , Show All Causes , Show ...
Craniofacial dysostosis -- arthrogryposis -- progeroid appearence. 306. Craniofacial dysostosis type 1. 307. ... Dysostosis acral with facial and genital abnormalities. 364. Eagles syndrome. 365. Ear Psoriasis. 366. Ear foreign body. 367. ... Spondylocostal dysostosis, autosomal recessive. 1103. Spondyloepiphyseal dysplasia -- nephritic syndrome. 1104. ...
... and CRANIOFACIAL DYSOSTOSIS. Definition (MSHCZE) Předčasný uzávěr a osifikace lebečních švů. Vede k zmenšení prostoru pro ...
Defects in FGFR2 are the cause of Crouzon syndrome (CS) [MIM:123500]; also called craniofacial dysostosis type I (CFD1). CS is ... craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death.. Defects in FGFR2 are the ... JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet ...
Craniofacial Dysostosis / genetics * Cytoskeletal Proteins / genetics * Cytoskeletal Proteins / metabolism * Exome * ...
Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and ... Craniofacial Dysostosis / genetics, pathology*. Humans. Infant, Newborn. Phenotype. Syndrome. From MEDLINE®/PubMed®, a database ... These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We ... Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and ...
Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new ... Craniofacial Dysostosis-PD Arteriosus-Hypertrichosis-Hypoplasia of Labia. *Craniosynostosis-Hypertrichosis-Facial and Other ... Other craniofacial abnormalities may also be present, including downwardly slanting eyelid folds (palpebral fissures), a highly ... Craniofacial dyostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin- ...
Crouzons disease craniofacial dysostosis.. Cruveilhiers disease spinal muscular atrophy.. Cushings disease Cushings ... retarded eruption with cleidocranial dysostosis, missing lateral incisors with ptosis of the eyelids, missing premolars with ...
Crouzon Syndrome (Craniofacial Dysostosis): See Fact Sheet.. ▸ D Denasality: The quality of voice that lacks normal nasal ... Craniofacial Anomaly: A visible, structural and/or functional difference affecting the head (cranium) and/or face. ... The following are terms you may encounter related to cleft or craniofacial care. ...
otomandibular dysostosis, see Craniofacial microsomia. *Otopalatodigital syndrome type 1. *Otopalatodigital syndrome type 2 ... oculoauriculovertebral spectrum, see Craniofacial microsomia. *oculocerebrofacial syndrome, Kaufman type, see Kaufman ...
Crouzon syndrome was described in 1912 as one of the varieties of craniofacial dysostosis caused by premature obliteration and ... The craniofacial dysostosis syndromes: current surgical thinking and future directions. Cleft Palate Craniofac J. 2000 Sep. 37( ... Ignatowicz R, Gdakowicz B. [Craniofacial dysostosis of the Crouzon type]. Wiad Lek. 1971 Feb 15. 24(4):363-6. [Medline]. ... Tessier P. The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. Crouzons and ...
... and CRANIOFACIAL DYSOSTOSIS. ... Multicenter Observational Study From the Pediatric Craniofacial ...
Crouzons disease (craniofacial dysostosis). Modern diagnosis and treatment. J Neurosurg. 1972 Oct; 37(4):434-41. PMID: 5070870 ...
Craniofacial dysostosis. 0004439 Downturned corners of mouth. Downturned corners of the mouth ...
New trends in cranio-orbital and midface distraction for craniofacial dysostosis.. 22894998 Current opinion in otolaryngology ... 19254053 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, ... 12733950 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, ... Surgery - Craniofacial, New York University Medical Center, New York Clinical Interests. Craniosynostosis, cleft lip and palate ...
  • Facial dysostoses are a group of congenital craniofacial anomalies caused by abnormal development of the first and second pharyngeal arches during embryogenesis. (blueprintgenetics.com)
  • This study is a multi-center, longitudinal cohort study of 125 infants with craniofacial microsomia (CFM) and 100 infants without craniofacial anomalies. (clinicaltrials.gov)
  • The materials in this collection include teaching materials for the courses she taught, a range of academic papers on various topics in the field of linguistics and speech pathology, and material related to her own research on early language development, craniofacial anomalies, and Japanese phonetics. (uchicago.edu)
  • While working on her dissertation she pursued a second major area of interest as a consultant and a collaborative researcher in Chicago at the Center for Craniofacial Anomalies at the University of Illinois Medical Center. (uchicago.edu)
  • BSCGS is an autosomal dominant condition is characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. (abcam.com)
  • Crouzon Support Network - Information and support for individuals and families affected by Crouzon Syndrome and related craniofacial anomalies. (kaiserpermanente.org)
  • OMENS-Plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia. (radiopaedia.org)
  • Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g. (tum.de)
  • Crouzon syndrome, also known as craniofacial dysostosis, is primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial abnormalities. (rarediseases.org)
  • Crouzon syndrome is associated with additional craniofacial abnormalities. (rarediseases.org)
  • Crouzon syndrome, also known as craniofacial dysostosis, is a complex genetic birth disorder that may affect a child's face, skull and teeth. (childrenshospital.org)
  • Crouzon syndrome is characterised by a variety of craniofacial and developmental symptoms. (dermnetnz.org)
  • Craniosynostosis , or premature fusion of the cranial sutures, is the basic identifiable characteristic of a patient who has Crouzon syndrome (sometimes called craniofacial dysostosis). (kaiserpermanente.org)
  • Crouzon syndrome is distinguished from other syndromes of craniosynostosis in that all of the findings are limited to the craniofacial skeleton. (kaiserpermanente.org)
  • Any child diagnosed with Crouzon syndrome should be thoroughly evaluated by a skilled craniofacial team. (kaiserpermanente.org)
  • FGFR2 mutations are also associated with Crouzon syndrome, Pfeiffer syndrome, craniofacial dysostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, and Saethre-Chotzen syndrome. (clontech.com)
  • He had prior history of craniofacial surgery for Crouzon syndrome. (ispub.com)
  • Crouzon syndrome, also known as Crouzon disease and craniofacial dysostosis, is a genetic disorder in which premature closure of the sutures prevents normal cranial development, causing deformity of the head and face. (ispub.com)
  • Is ideal for patients with a clinical suspicion of Treacher-Collins syndrome or other craniofacial dysostosis. (blueprintgenetics.com)
  • Treacher Collins syndrome (TCS), also known as Treacher Collins-Franceschetti syndrome, or mandibulofacial dysostosis, is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. (blueprintgenetics.com)
  • Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities. (clinicaltrials.gov)
  • These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. (biomedsearch.com)
  • JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. (abcam.com)
  • Her it is>http://en.Wikipedia.Org/wiki/hellp_syndrome good luck. (healthtap.com)
  • Keratoconus has been associated with other medical disorders including atopic disease, Down's syndrome, Ehlers-Danlos syndrome, Marfan's syndrome, craniofacial dysostosis and osteogenesis imperfecta. (harvard.edu)
  • Mandibulofacial Dysostosis describes some of the features of this syndrome. (ucdavis.edu)
  • Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. (tum.de)
  • Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. (readbyqxmd.com)
  • Other causes include choanal atresia or stenosis, nasal septal deviation, enlarged tongue, and facial abnormalities, such as those seen in patients with Crouzon's disease (craniofacial dysostosis) or trisomy 21. (thefreedictionary.com)
  • also called craniofacial dysostosis type I (CFD1). (abcam.com)
  • Facial and cranio-facial malformations: classification, pathogenesis, clinical and treatment principles of cleft lip and palate, otomandibular dysostosis, craniostenosis and craniofaciostenosis. (unimi.it)
  • Nager acrofacial dysostosis: evidence for apparent heterogeneity. (biomedsearch.com)
  • 154400 ]. AFD1 is a form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. (proteopedia.org)
  • 125 children with craniofacial microsomia will be asked to come in for two study visits - when they are about 12 months old and again when they are about 36 months old. (clinicaltrials.gov)
  • Please note: we are not recruiting this group through ClinicalTrials.gov 100 children without craniofacial microsomia will be asked to come in for two study visits - when they are about 12 months old and again when they are about 36 months old. (clinicaltrials.gov)
  • 125-250 parents of children with craniofacial microsomia will be asked to complete three visits - when their child is about 12 months old, 24 months old, and 36 months old. (clinicaltrials.gov)
  • Please note: we are not recruiting this group through ClinicalTrials.gov 100 parents of children without craniofacial microsomia will be asked to complete three visits - when their child is about 12 months old, 24 months old, and 36 months old. (clinicaltrials.gov)
  • What is craniofacial microsomia? (seattlechildrens.org)
  • In children with craniofacial microsomia (CFM), part of the face is smaller than normal. (seattlechildrens.org)
  • We do not know why children are born with craniofacial microsomia. (seattlechildrens.org)
  • For most children, craniofacial microsomia is not passed down from parents (inherited). (seattlechildrens.org)
  • Most families have never heard of craniofacial microsomia before their child is born with it. (seattlechildrens.org)
  • A diagnosis of craniofacial microsomia can be scary. (seattlechildrens.org)
  • This child does not have other craniofacial findings of hemifacial microsomia, thus cardiac echocardiography is not indicated. (brainscape.com)
  • 3. Birgfeld CB, Heike C. Craniofacial microsomia. (radiopaedia.org)
  • Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. (wikipedia.org)
  • Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have. (wikipedia.org)
  • Blueprint Genetics / Tests / Panels / Malformations / Facial Dysostosis and Re. (blueprintgenetics.com)
  • For children who have relatives with similar facial differences, we recommend a visit with a counselor at our Craniofacial Genetics Clinic . (seattlechildrens.org)
  • Stanescu type dysostosis is a rare form of osteosclerosis. (cdc.gov)
  • Ignatowicz R, Gdakowicz B. [Craniofacial dysostosis of the Crouzon type]. (medscape.com)
  • Craniofacial dysostosis is the term applied to familial forms of craniosynostosis in which the sutural involvement may include the facial. (netdoctor.co.uk)
  • PTSS, depression, craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve both limb and craniofacial deformities in an intellectually capable individual. (clinicaltrials.gov)
  • 1 In the following year, Dr Alexander Russell reported five similar cases with intrauterine dwarfism and craniofacial dysostosis. (hkmj.org)
  • and (7) evaluate possible differences with patients meeting the full Stevenson criteria and those fulfilling the craniofacial part of the Stevenson criteria, with or without additional malformations. (clinicaltrials.gov)
  • For reconstructive surgeries of craniofacial malformations in general, psychological issues may arise from the consequences of multiple surgeries and recuperation periods. (medscape.com)
  • Our plastic surgeons and neurosurgeons are world renowned for their advanced surgical techniques and precision in treating this complex craniofacial anomaly. (childrenshospital.org)
  • Crouzon was the first to describe a condition he called "craniofacial dysostosis", defined as a genetic branchial arch disorder that results in abnormal facial features. (wikipedia.org)
  • The term is from cleido meaning collarbone, cranial from the Greek κρανιὀς meaning skull, and dysostosis meaning formation of abnormal bone. (wikipedia.org)
  • It is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. (cdc.gov)
  • Breaking down the name, "craniofacial" refers to the skull and face, and "dysostosis" refers to synostosis (a union between adjacent bones or parts of a single bone). (bionity.com)
  • This rare condition is characterized by bilateral choanal atresia, hearing loss, cleft lip and/or palate, and other craniofacial dysmorphisms. (tum.de)
  • The Craniofacial Program at Boston Children's Hospital provides a team approach to the evaluation, diagnosis and treatment of children with this condition. (childrenshospital.org)
  • Your child's craniofacial pediatrician guides your child's treatment and decides if other specialists are needed. (seattlechildrens.org)
  • The surgeries can be performed at different ages according to the child's growth and development, as well as to a craniofacial team's recommendations. (kaiserpermanente.org)
  • Dysostosis means that certain bones are not formed normally. (ucdavis.edu)
  • View our complete Craniofacial Center referral information . (seattlechildrens.org)
  • CFM is one of the most common problems that we treat at Seattle Children's Craniofacial Center. (seattlechildrens.org)
  • Please call the Craniofacial Center at 206-987-2208 for more information, a second opinion or to make an appointment. (seattlechildrens.org)
  • Our Craniofacial Center has experts in every field your child might need. (seattlechildrens.org)
  • The cranial base is an important growth center of the head and is believed to play a significant role in the integration of craniofacial development and growth. (docme.ru)
  • For an appointment with the Cleft and Craniofacial Center , more information or to obtain a second opinion for your child, please call us at 617-355-6309 or email our program coordinator, [email protected] . (childrenshospital.org)
  • Each day I count myself fortunate to be able to work with children with craniofacial challenges. (seattlechildrens.org)
  • The following are terms you may encounter related to cleft or craniofacial care. (cleftline.org)
  • We care for more than 500 patients every year with a range of craniofacial conditions, a high volume among the country's top programs. (childrenshospital.org)