Radiology, Vol 120, 641-647, Copyright © 1976 by Radiological Society of North America

ARTICLES

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

A Khajavi, R Lachman, D Rimoin, RN Schimke, J Dorst, S Handmaker, A Ebbin and G Perreault

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.

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