A Case of Aase-Smith Syndrome.

Kim,  Dong Jun; Seol,  In Joon

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Case Report

Journal of the Korean Child Neurology Society 1998;6(1):113-117.
Published online October 30, 1998.

A Case of Aase-Smith Syndrome.

Dong Jun Kim, In Joon Seol

Department of Pediatrics, Han Yang University, College of Medicine, Seoul, Korea.

Abstract

The Aase-Smith syndrome is characterized by Dandy-walker malformation, hand abnormalities, joint contractures of the hands, and cleft palate. It is known to be inherited as autosomal dominant trait and to have variable patterns of expression. We experienced a case of a 3 day old male neonate who had cleft palate, joint contractures, long fingers, and Dandy-Walker malformation with a agenesis of cerebellar vermis, partial agenesis of corpus callosum, cerebellar atrophy, lissencephaly, and microcephaly. We reported a case with a brief review of literatures.

Key Words: Aase-Smith syndrome

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