A Case of Acrocallosal Syndrome with Developmental Delay: A case report.
- Author:
Jin Hong CHO
1
;
Dong Hun SHIN
;
Eun Shin LEE
;
Chul Ho YOON
;
Hee Suk SHIN
Author Information
1. Department of Rehabilitation Medicine, Gyeongsang National University College of Medicine, Korea. hsshin@nongae.gsnu.ac.kr
- Publication Type:Case Report
- Keywords:
Agenesis;
Corpus callosum;
Development;
Acrocallosal syndrome
- MeSH:
Acrocallosal Syndrome*;
Agenesis of Corpus Callosum;
Corpus Callosum;
Humans;
Polydactyly
- From:Journal of the Korean Academy of Rehabilitation Medicine
2003;27(6):997-999
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Agenesis of the corpus callosum is a frequent anomaly that presents with a spectrum of clinical features and exhibits variable findings in neurological studies. Callosal agenesis may be an isolated anomaly or may be syndromic as part of more extensive malformations, metabolic and genetic disorders. We experienced a case of agenesis of corpus callosum with developmental delay, diagnosed to acrocallosalsyndrome. Acrocallosal syndrome is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here reported a case of acrocallosal syndrome with the review of literatures.
