Heterogeneity in the campomelic syndromes: long and short bone varieties.
There appears to be definite heterogeneity within the campomelic syndromes. We are broadly classifying these into the classic or long bone campomelic syndromes and 2 distinct short bone varieties designated as the normocephalic short-boned and craniosynostotic short-boned types, respectively (Table 1).
D004392:Dwarfism / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome