Affiliations: Department of Obstetrics and Gynecology, University of Miami Leonard M. Miller School of Medicine, Jackson Memorial Hospital, Miami, FL, USA | Department of Perinatal Pathology, Warren Alpert Medical School of Brown University, Women and Infants Hospital, Providence, RI, USA
Note: [] Corresponding author: Frank Crespo, Department of Obstetrics and Gynecology, 1611 NW 12th Ave, Miami, FL 33136, USA. Tel.: +1 305 585 5640; Fax: +1 305 585 9292; E-mail: [email protected].
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.
