A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

A case study of a 17-year-old Turkish boy with Tetralogy of Fallot (TOF) and pulmonary atresia, intellectual deficiency (ID), short stature, microcephaly and dysmorphic features. Topics include frameshift mutation at the gene, polyglutamine-binding protein 1 which leads to Renpenning syndrome; and report of pulmonary atresia together with TOF in Renpenning syndrome.