105 - Limb–Body Wall Complex

Abstract

Limb–body wall complex (LBWC) refers to a combination of multiple malformations involving the craniofacial structures, thoracoabdominal wall, extremities, and spine. The classic clinical triad of LBWC includes a craniofacial defect (characteristically exencephaly or encephalocele with facial cleft), limb deformity, and body wall malformation with evisceration. The associated anomalies also often involve extensive lesions of the thoracoabdominal region with visceral herniation, a short or absent umbilical cord, and exteriorization of the fetal heart and bladder. Theories regarding the etiology of LBWC include early amnion rupture causing mechanical injury, defective development in the germinal disk, and vascular disruption during embryogenesis. The main features of LBWC can be identified by routine obstetric ultrasound (US); however, diagnosis during the second trimester can be challenging because of associated oligohydramnios. Magnetic resonance imaging has been reported to be a useful adjunct to US in the diagnosis because it provides more comprehensive images of congenital anomalies. There are currently no prenatal or postnatal treatment options for fetuses with LBWC; termination of pregnancy should be offered because this abnormality is uniformly lethal.