Cerebro-ocular dysplasia ?Muscular dystrophy (COD-MD) syndrome
- 1 January 1984
- journal article
- research article
- Published by Springer Science and Business Media LLC in Acta Neuropathologica
- Vol. 65 (2), 110-123
- https://doi.org/10.1007/bf00690464
Abstract
The Fukuyama form of congenital muscular dystrophy (FCMD), first described in Japan, is associated with distinct dysplastic cerebral malformations including agyria and micropolygyria of cerebral cortex, micropolygyria of cerebellum, and leptomeningeal gliomesodermal proliferations. We describe seven cases in four families from the United States with a syndrome similar to FCMD but with additional ophthalmic malformations. We believe that these cases represent a form of congenital muscular dystrophy different from FCMD and termed it cerebroocular dysplasia-muscular dystrophy (COD-MD) syndrome.This publication has 24 references indexed in Scilit:
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