Genetic counseling in acrocallosal syndrome.

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dc.contributor.authorBijarnia, Sunitaen_US
dc.contributor.authorBaijal, Ashoken_US
dc.contributor.authorVerma, I Cen_US
dc.date.accessioned2003-02-29en_US
dc.date.accessioned2009-05-30T12:57:45Z
dc.date.available2003-02-29en_US
dc.date.available2009-05-30T12:57:45Z
dc.date.issued2003-02-29en_US
dc.description.abstractThis article reports two families with children having acrocallosal syndrome, an autosomal recessive disorder characterized by agenesis of corpus callosum, facial dysmorphism and polydactyly along with psychomotor retardation. Both families sought genetic counseling in subsequent pregnancies. Although the gene for the disorder is not yet identified, prenatal diagnosis was attempted by ultrasound studies. In both families, an affected fetus was diagnosed in the presence of postaxial polydactyly of hands and absence of corpus callosum. It is emphasized that pediatricians should make precise diagnosis in cases of dysmorphism and mental retardation, as this enable prenatal diagnosis in future pregnancies.en_US
dc.description.affiliationDepartment of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.en_US
dc.identifier.citationBijarnia S, Baijal A, Verma IC. Genetic counseling in acrocallosal syndrome. Indian Journal of Pediatrics. 2003 Feb; 70(2): 169-71en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/81212
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshAbnormalities, Multiple --embryologyen_US
dc.subject.meshCorpus Callosum --abnormalitiesen_US
dc.subject.meshGenes, Recessiveen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshPolydactyly --embryologyen_US
dc.subject.meshSyndromeen_US
dc.subject.meshUltrasonography, Prenatalen_US
dc.titleGenetic counseling in acrocallosal syndrome.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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