Dysostoses
| Definition: |
Defective bone formation involving individual bones, singly or in combination. |
| Notes: |
defective bone formation |
| Previously Indexed: |
Bone Diseases (1966-1969),Bone Diseases, Developmental (1970-1984) |
Dysostoses Categories.
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Craniofacial Dysostosis - An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. (Dorland, 27th ed) |
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Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. |
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Klippel-Feil Syndrome - A condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. The hairline is low and the motion of the neck is limited. (Dorland, 27th ed) |
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Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. |
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Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
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Synostosis - 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) |
Dysostoses Definitions and Terms
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