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Radiology, Vol 181, 183-188, Copyright © 1991 by Radiological Society of North America


ARTICLES

Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations

GF Eich, MM Silver, R Weksberg, A Daneman and T Costa
Department of Radiology, Hospital for Sick Children, University of Toronto.

Radiographic, clinical, and histologic findings in two infants and a neonate with a syndrome of profoundly accelerated skeletal maturation included features closely resembling those of Marshall-Smith (MS) syndrome, but patients had dysmorphic ears as well as distinctive generalized skeletal abnormalities suggestive of a bone dysplasia. Among these was an instability at the craniocervical junction with severe spinal stenosis. These previously unrecognized abnormalities may represent uncommon manifestations within the spectrum of MS syndrome or indicate the existence of a separate disorder.





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