Amniotic band syndrome and/or limb body wall complex: split or lump.

Abstract

Six cases of amniotic band syndrome/limb body wall complex were studied in respect to clinicopathologic characteristics. The diagnosis was based on two out of three of the following manifestations: cranio facial clefts; limb body wall defects and amniotic band attachment. Four cases were stillborn and associated with internal defects, including central nervous system. Two cases had facial and limb defects and were live born (3-5 years old at examination). Phenotypic features of the stillborn cases were craniofacial clefting, thoracoabdominoschisis, amputation, ring constriction, amniotic band adhesion, placental adhesions, and internal malformations. Histology of bands revealed fibroconnective tissue as well as flattened epithelial cells together with neuroectodermal elements. Umbilical cord section revealed an abnormal number of vessels. When analyzing the observed data in relation to their etiology, it was found that amniotic disruption, vascular disruption or genetic disruption could explain the amniotic band syndrome/limb body wall complexes, alone or in combinations. A brief review of literature in search of pathogenesis is offered along with an etiopathogenetic model.