Severe Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis

Abstract

Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis. This morphologic constellation prompts us to emphasize the consideration of this etiological influence and provides further evidence. In fact, the pattern of anomalies in the affected fetus provides new insight into the severity and presentation of PC due to mechanical teratogenesis, which is a significant etiological consideration in clinical evaluation and implies that the syndrome involves a complex defective fetal development.