Abstract

CHARGE syndrome is a syndrome with coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia. Congenital heart defects occur in 75-80 % of patients. Tetralogy of Fallot is the commonest heart defect.

We report a 15 day old newborn antenatally diagnosed and referred to our hospital for cardiopathy but postnatally presented with bilateral iris and choroid coloboma, left microphthalmos, micropenis, cryptorchidism, right renal agenesis, left vesicoureteral reflux and tetralogy of Fallot and diagnosed as CHARGE syndrome.