Familial Third and Fourth Pharyngeal Pouch Syndrome with Truncus Arteriosus: DiGeorge Syndrome

Abstract

A family is presented in which three of four siblings had truncus arteriosus and other anomalies compatible with the third and fourth pharyngeal pouch syndrome (DiGeorge syndrome). The syndrome is uncommon and most of the reported cases have been solitary. In this family an autosomal recessive inheritance is possible.