title: Diastrophic dwarfism.
abstract: Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate. Radiographic findings include flaring of the metaphyses of tubular bones and flattened epiphyses which appear late. The major orthopedic problem in diastrophic dwarfism is correction of the recalcitrant clubfoot deformity; cervical spine subluxation or kyphoscoliosis may also require intervention. This disorder is inherited as an autosomal recessive condition.
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D003025:Clubfoot / Q000150:complications; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006618:Hip Dislocation, Congenital / Q000473:pathology; D004204:Joint Dislocations / Q000209:etiology; D007738:Kyphosis / Q000150:complications; D011859:Radiography; D012131:Respiratory Insufficiency / Q000150:complications; D012600:Scoliosis / Q000150:complications; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging