2004-08-16-08 Limb-Body wall complex © Cuillier www.thefetus.net/
Limb-Body wall complex
Fabrice Cuillier, MD
Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. Ph : 0262 90 55 22. This is a 26 year old woman scanned at 12 weeks of gestation. A transvaginal scan demonstrated a live fetus with an omphalocele, measuring 2 X 2 cm, protruding from the anterior abdominal wall and a meningocele.The bladder was not visualized, but amniotic bands were present and the lower limbs were malpositioned.
Three-dimensional trans-vaginal ultrasound clearly demonstrated the omphalocele as a solid mass protruding from the ventral wall and the lower limb behind.
Initially, the parents refused interruption, but after genetic consultation and amniocentesis they chose to terminate the pregnancy. The fetus was delivered vaginally. A mid line spherical mass which contained liver and bowel protruded from the anterior abdominal wall of the fetus and the lower limbs were deformed. An autopsy confirmed LBWC without cranio-facial defect. Unfortunately, the rest of the pelvis was destructed during delivery. There were broad adhesive bands overlying the omphalocele. The karyotype was 46 XX.
The Limb Body Wall Complex is a rare polymalformative syndrome. Two phenotypes have been described: one form with placento-cranial adhesion and the other with placento-abdominal adhesion. Omphaloceles are found in all cases, and variably coexists with encephalic, vertebral, visceral and limb anomalies. This syndrome should be better known and it has a good prognosis for a later pregnancy because there is no reccurence.