J Korean Acad Rehabil Med.  2003 Dec;27(6):997-999.

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

• Cho JH
• Shin DH
• Lee ES
• Yoon CH
• Shin HS

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.

Keyword

Agenesis; Corpus callosum; Development; Acrocallosal syndrome

MeSH Terms

Acrocallosal Syndrome*
Agenesis of Corpus Callosum
Corpus Callosum
Humans
Polydactyly