Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.
Analysis of 9 cases of bilateral bent limbs (campomelia) and dwarfism, as well as a review of the literature, indicate that campomelic syndrome appears to be a well-defined distinct disorder which the authors call long-limbed campomelic syndrome. Other neonates with congenital bent-limbed dwarfism can be classified as having short-limbed campomelic syndrome, and among these at least two distinct forms have been delineated--the craniosynostotic and the normocephalic form. Congenital bent bones also occur in a variety of generalized disorders of ossification that must be distinguished from these well-defined types of campomelic dwarfism.
D000015:Abnormalities, Multiple / Q000145:classification / Q000000981:diagnostic imaging*; D003394:Craniofacial Dysostosis / Q000150:complications; D004392:Dwarfism / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000150:complications; D017880:Limb Deformities, Congenital; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013577:Syndrome