Annals of Rehabilitation Medicine

Case Report: J Korean Acad Rehabil Med. 2003;27(6):997-999.; 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; Department of Rehabilitation Medicine, Gyeongsang National University College of Medicine, Korea. hsshin@nongae.gsnu.ac.kr

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)

Keywords :Agenesis, Corpus callosum, Development, Acrocallosal syndrome