Cantrell syndrome in one of a set of monozygotic twins

Cantrell syndrome is a rare syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and the heart. The spectrum of anomalies varies widely. A full syndrome, probable syndrome and incomplete expression have been described. Less than 160 cases have been described in the world literature. Only one set of monozygotic twins concordant with the syndrome has been reported. To our knowledge, the syndrome affecting only one of a set of twins has not been reported. We report a premature infant, the first-born twin, with the syndrome. The omphalocoele was large, and heart abnormalities included dextrocardia with atrial septal defect. The co-twin is normal.