Limb body wall complex

Abstract

Limb-body wall complex (LBWC) is a rare, complicated, polymalformative fetal malformation syndrome with the essential features of: a) exencephaly/encephalocele with facial clefts, b) thoraco-and/or abdominoschisis and c) limb defect [1]. Generally, the diagnosis is based on two of three of the above features. Two phenotypes have been described, the “placenta-cranial” and “placento-abdominal” adhesion phenotypes. This complex malformation, has no sex or familial predilection and is invariably fatal. The poor prognosis of LBWC necessitates an early antenatal diagnosis. Serum alpha-fetoprotein measurement and ultrasonographic examination is the key to prenatal diagnosis. The sonographic hallmark of LBWC is characterized by thoraco- and/or abdominoschisis, neural-tube abnormalities, severe scoliosis, positional deformities and abnormalities of fetal membranes [2]. In this case report we highlight the sonographic and colour flow imaging findings in LBWC presenting on routine antenatal scanning, along with the plain radiographs and the photographs of the aborted fetus.