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Pediatr Neurol. 2010 Feb;42(2):129-32. doi: 10.1016/j.pediatrneurol.2009.09.012.

Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome.

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  • 1Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Abstract

We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega-corpus callosum syndrome, suggests a possible autosomal-recessive inheritance, and expands the spectrum of this rare entity.

PMID:
20117750
[PubMed - indexed for MEDLINE]
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