A family with multiple musculoskeletal abnormalities.
A family with multiple musculoskeletal abnormalities is reported. The disorder is characterised by platyspondyly, abnormality of the upper femoral epiphyses, and the development of precocious osteoarthritis. It is proposed that this family represents an example of autosomal dominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).
D000293:Adolescent; D000328:Adult; D002648:Child; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities; D006801:Humans; D008297:Male; D008875:Middle Aged; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics*; D010003:Osteoarthritis / Q000235:genetics; D010375:Pedigree; D011859:Radiography; D013131:Spine / Q000002:abnormalities