Abstract
We report two cases of limb-body wall complex (LBWC), also known as body stalk anomaly,
a rare form of body wall defect incompatible with life. The first case was identified
during a level II ultrasound examination performed at 7 wk gestational age. The delivery
was by breech extraction at 39 wk and 4 days. The second case was delivered by spontaneous
vaginal delivery at 35 wk and 5 days. Karyotype analysis was normal in both fetuses.
The phenotype of LBWC is variable, but commonly identified features include: exencephaly,
limb defects, and either facial clefts or thoraco-abdominoschisis. The exact etiology
remains uncertain, as the disorder has been regarded as sporadic with low recurrence.
Vascular disruption during early embryogenesis, early amnion rupture, abnormal splitting
of the embryo, and failure of amnion fusion have been implicated in the pathogenesis
of LBWC. A role for possible gene mutation and maternal use of alcohol, tobacco, or
illicit drugs has also been suggested. Detailed ultrasonography along with biochemical
screening may allow for early detection.
Keywords
Abdominal wall/abnormalities - fetus/pathology - limb defects - pregnancy - thoracic
wall/abnormalities - limb-body wall complex
