Heterogeneity of autosomal dominant osteopetrosis.
A review of the radiographs of 26 patients with autosomal dominant osteopetrosis disclosed two distinct and strictly family-related radiographic types. Both types had universal osteosclerosis. In type 1 the most striking finding was pronounced sclerosis of the cranial vault while the spine was almost unaffected. In type 2 the sclerosis of the skull was most pronounced at the base, the vertebrae always had end-plate thickening, and in the pelvis the iliac wings contained convex arcs of sclerotic bone. Age and sex distribution did not differ between the types. Autosomal dominant osteopetrosis may be a heterogeneous group of inherited bone disorders.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010022:Osteopetrosis / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging