Multiple epiphyseal dysplasia: a family study.
Three generations of a single family exhibited evidence of multiple epiphyseal dysplasia. The distribution of involvement was entirely consistent with an autosomal dominant mode of inheritance. The family was characterized by premature osteoarthrosis of the hips developing in adolescence or early adulthood. In most patients there were no obvious signs of an underlying anomaly and the diagnosis was not recognized for a long time. Eventual diagnosis of the disorder allowed easy genetic counselling.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001175:Arthrography; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005270:Femur Head / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree