Infant with midline thoracoabdominal schisis and limb defects

Abstract

An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and various limb defects including ectrodactyly of the right hand and left foot, and phocomelia of the right lower extremity. The infant expired soon after birth. The radiological findings included absence of the sternum, 11 right-sided ribs, absence of the middle third of the right clavicle, opaque right hemithorax, hypoplastic right tibia, absent right fibula and foot, and ectrodactyly of the right hand and left foot. In addition, the autopsy revealed two distinct diaphragmatic defects, an anterior midline defect of the diaphragm beneath the ectopic heart, and a large Bochdalek hernia, with abdominal contents in the chest. Our case has overlapping features with conditions such as thoracoabdominal syndrome, pentalogy of Cantrell, and limb-body wall complex, but the concurrence of midline body wall defect and ectrodactyly has not been described previously. Teratology 58:205–208, 1998. © 1998 Wiley-Liss, Inc.