Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.
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 cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D012160:Retina / Q000473:pathology; D013577:Syndrome