Limb–Body Wall Complex

Introduction

Limb–body wall complex (LBWC) refers to a combination of multiple malformations involving the craniofacial structures, thoracoabdominal wall, extremities, and spine. LBWC is almost uniformly lethal and associated with a very poor outcome because of, among other factors, pulmonary hypoplasia. The associated anomalies can be significantly disfiguring, often involving extensive lesions of the thoracoabdominal region with visceral herniation, a short or absent umbilical cord, and exteriorization of the fetal heart and bladder. Although what is described as LBWC in the literature includes a highly variable phenotype, clues suggestive of the diagnosis include an asymmetric and/or anteriorly placed cranioschisis (especially if associated with facial cleft); an extensive abdominal wall defect not typical of an omphalocele or gastroschisis; or any concurrence of cranioschisis, limb defect, or thoracoabdominoschisis.

Disorder