Table 1

Clinical findings in our patient

CraniofacialFlat facies, microretrognathia, blepharophimosis, short nose with hypoplasic alae nasi and absent nasal bridge, low set and malformed ears, and glossoptosis with hypoplastic palate
CardiovascularTetralogy of Fallot with pulmonary atresia
SkeletalArticular limitation, cubital deviation of hands, talipes varus, and hemivertebra at L1 level
GenitourinaryUnilateral renal agenesis (left kidney) and cryptorchidism
OcularColoboma and unilateral chorioretinitis (right eye)