A Case of Acrocallosal Syndrome with Developmental Delay: A case report.

, Cho, Jin Hong; , Shin, Dong Hun; , Lee, Eun Shin; , Yoon, Chul Ho; , Shin, Hee Suk

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2003;27(6):997-999.

Cho, Jin Hong , Shin, Dong Hun , Lee, Eun Shin , Yoon, Chul Ho , Shin, Hee Suk

Department of Rehabilitation Medicine, Gyeongsang National University College of Medicine, Korea. hsshin@nongae.gsnu.ac.kr

발달지연을 동반한 뇌량 무형성증 1례 ⁣증례 보고⁣

조진홍, 신동훈, 이은신, 윤철호, 신희석

경상대학교 의과대학 재활의학교실

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 acrocallosal syndrome. 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 syn drome with the review of literatures. (J Korean Acad Rehab Med 2003; 27: 997-999)

Key Words: Agenesis, Corpus callosum, Development, Acrocallosal syndrome