Genetic counseling in acrocallosal syndrome

Genetic counseling in acrocallosal syndrome This 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Indian Journal of Pediatrics Springer Journals

Genetic counseling in acrocallosal syndrome

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Publisher
Springer Journals
Copyright
Copyright © 2003 by Dr. K C Chaudhuri Foundation
Subject
Medicine & Public Health; Pediatrics; Gynecology
ISSN
0019-5456
eISSN
0973-7693
DOI
10.1007/BF02723748
Publisher site
See Article on Publisher Site

Abstract

This 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.

Journal

Indian Journal of PediatricsSpringer Journals

Published: Feb 1, 2003

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