Indian Journal of Human Genetics
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CASE REPORT
Year : 2010  |  Volume : 16  |  Issue : 3  |  Page : 166-168

A rare case of congenital heart disease with ambiguous genitalia


1 Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Manasagangothri, Mysore - 570 006, Karnataka, India
2 Department of Pediatrics, Cheluvamba Hospital, Mysore Medical College, Mysore, Karnataka, India

Correspondence Address:
Nallur B Ramachandra
Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Manasagangothri, Mysore - 570 006
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.73414

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Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.


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