LIMB BODY-WALL COMPLEX - A CRITICAL-REVIEW AND A NOSOLOGICAL PROPOSAL

The analysis of the literature on limb body wall complex reveals a var ied and rather confused spectrum of cases. However, we noticed the pre sence of at least 2 clearly distinguishable phenotypes. The first phen otype shows craniofacial defects and amniotic bands and/or adhesion; t he second-without craniofacial defects-presents urogenital anomalies, anal atresia, and abdominal placental attachment, together with a pers istence of the extraembryonic coelom. We think these 2 phenotypes are the consequence of different pathogenetic mechanisms. The pathogenesis of the first type can be related to an early vascular disruption, whi le the pathogenesis of the second one is attributable to an intrinsic embryonal maldevelopment. Eight cases of the second phenotype were ide ntified and the pathological findings proving this maldevelopmental or igin are described. (C) 1993 Wiley-Liss, Inc.