Incomplete pentalogy of Cantrell: a case report

Pentalogy of Cantrell is a rare congenital syndrome with an estimated incidence of 5.5 per 1 million live births. It is characterized by defects involving the supra-umbilical abdominal wall, lower sternum, anterior diaphragm, pericardium, and the intracardiac anomalies. The condition is believed to be caused by a failure in development of the lateral mesoderm, which occurs when the embryo is about 14–18 days old. The full spectrum of the syndrome is rare while incomplete expression of the syndrome and its variants are well-recognized. We described a neonate with a normal karyotype, diagnosed before birth as an incomplete pentalogy of Cantrell with complex intracardiac defects. The infant died on the sixth postnatal day, two days after surgical intervention to repair the abdominal wall, and diaphragm defects. The distinct findings relevant to pentad including the congenital heart anomalies, TOF type double outlet right ventricle, are highlighted.