Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy.

Abstract excerpt

Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome is a disorder of male (46,XY) gonadal dysgenesis, thought to be either an X-linked recessive or an autosomal recessive disorder. The propositus in our report presented with multiple congenital anomalies including micrognathia, cleft palate, congenital heart defect with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve...

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