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Schinzel Acrocallosal syndrome

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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.

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Correspondence to Veena Kalra.

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Gulati, S., Menon, S., Kabra, M. et al. Schinzel Acrocallosal syndrome. Indian J Pediatr 70, 173–176 (2003). https://doi.org/10.1007/BF02723749

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