Schinzel acrocallosal syndrome.

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dc.contributor.authorGulati, Sheffalien_US
dc.contributor.authorMenon, Shajien_US
dc.contributor.authorKabra, Madhulikaen_US
dc.contributor.authorKalra, Veenaen_US
dc.date.accessioned2003-02-29en_US
dc.date.accessioned2009-05-30T10:42:21Z
dc.date.available2003-02-29en_US
dc.date.available2009-05-30T10:42:21Z
dc.date.issued2003-02-29en_US
dc.description.abstractAcrocallosal 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.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.en_US
dc.identifier.citationGulati S, Menon S, Kabra M, Kalra V. Schinzel acrocallosal syndrome. Indian Journal of Pediatrics. 2003 Feb; 70(2): 173-6en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/78922
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshAbnormalities, Multiple --geneticsen_US
dc.subject.meshCorpus Callosum --abnormalitiesen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshPolydactyly --geneticsen_US
dc.subject.meshSeizures --etiologyen_US
dc.subject.meshSyndromeen_US
dc.titleSchinzel acrocallosal syndrome.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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