Spondylometaphyseal dysplasia.
A family is described in which the father, son, and daughter have spondylometaphyseal dysplasia, consistent with an autosomal dominant pattern of inheritance. Radiologic changes spanning a period from 4 months to 31 years are described. Platyspondyly and metaphyseal deformity predominate. The severity of the radiologic changes is variable.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D001842:Bone and Bones / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging