Radiology, Vol 156, 365-371, Copyright © 1985 by Radiological Society of North America
Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia
FN Silverman and MA Reiley
Eight patients are presented who have a generalized bone dysplasia that
resembles severe cleidocranial dysplasia but lacks the cranial and
clavicular features of that well-defined condition. Vertebral-body
ossification is markedly defective, and ossification centers of the tubular
bones are grossly enlarged. These patients also differ from those with
variant forms of cleidocranial dysplasia described in the literature. It is
suggested that they constitute a separate entity sharing some features of
cleidocranial dysplasia, and the descriptive term
spondylo-megaepiphyseal-metaphyseal dysplasia is offered as a provisional
term until it can be more specifically categorized. The condition appears
to be transmitted as an autosomal recessive trait.
