A Case of Aase-Smith Syndrome.
- Author:
Dong Jun KIM
1
;
In Joon SEOL
Author Information
1. Department of Pediatrics, Han Yang University, College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Aase-Smith syndrome
- MeSH:
Agenesis of Corpus Callosum;
Atrophy;
Cleft Palate;
Contracture;
Dandy-Walker Syndrome;
Fingers;
Hand;
Humans;
Infant, Newborn;
Joints;
Lissencephaly;
Male;
Microcephaly
- From:
Journal of the Korean Child Neurology Society
1998;6(1):113-117
- CountryRepublic of Korea
- Language:Korean
-
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.
