Cerebro-ocular dysplasia -Muscular dystrophy (COD-MD) syndrome

J. Towfighi, J. W. Sassani, K. Suzuki, R. L. Ladda

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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.

Original languageEnglish (US)
Pages (from-to)110-123
Number of pages14
JournalActa Neuropathologica
Volume65
Issue number2
DOIs
StatePublished - Jun 1 1984

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All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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