Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or abnormal splitting of the embryo?

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.

Síndrome de Body Stalk. Reporte de caso.

“…El SBS consiste en una condición rara y letal, caracterizada por un defecto extenso de la pared abdominal, cifoescoliosis, cordón umbilical rudimentario corto y deformidades de las extremidades (13). El diagnóstico se basa en los criterios descritos por Van Allen et al, en el que deben coexistir 2 de las 3 anomalías planteadas: Exencefalia o encefalocele con hendiduras faciales, toraco y/o abdominosquisis, y defectos en las extremidades (14), características adicionales han sido descritas, tales como anomalías urogenitales y adhesión placentaria por lo que se han planteado varios fenotipos y formas de expresión (15,16). Todos esos hallazgos descritos, fueron encontrados en el caso presentado.…”