| Literature DB >> 12661815 |
Sheffali Gulati1, Shaji Menon, Madhulika Kabra, Veena Kalra.
Abstract
Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.Entities:
Mesh:
Year: 2003 PMID: 12661815 DOI: 10.1007/BF02723749
Source DB: PubMed Journal: Indian J Pediatr ISSN: 0019-5456 Impact factor: 1.967