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.
Bijarnia
Sunita
S
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Baijal
Ashok
A
Verma
I C
IC
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D013577:Syndrome; D016216:Ultrasonography, Prenatal