Syndrome of mesodermal defects involving the abdominal wall, diaphragm, sternum, heart and pericardium

A clinical entity with congenital defects involving the abdominal wall, sternum, diaphragm, heart and pericardium has recently been recognized as a distinct syndrome apart from ectopia cordis (Cantrell, Haller and Ravitch, 1958; Crittenden, Adams and Mulder, 1959). This case is a surgically-proven example and is presented to stress that the diagnosis can be suspected by plain film radiography of the chest and abdomen. Although this entity has been referred to in previous articles on congenital anomalies of the abdomen wall (Franken, 1971), there has been no specific report on this topic in the radiological literature. A male infant was delivered normally, at Fort Ord Army Hospital, California, U.S.A. There had been no recognized infection or unusual environmental exposure during the mother's pregnancy. The family history was negative for congenital defects and there were no siblings. Birth weight was 3,260 g. The child was in mild respiratory distress at birth without cyanosis. Breath sounds were normal. Heart sounds were loudest in the right chest and there were no murmurs. The sternum was shortened. A 6 × 7 cm omphalocoele was present with a large muscular defect in the anterior abdominal wall cephalad to the omphalocoele. The remainder of the physical examination was unremarkable.