Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology

Abstract

Introduction:

Limb body wall complex is a rare polymalformative syndrome which consists of an abdominal and/or thoracic wall defect with an extremely short umbilical cord associated with kyphoscoliosis, intestinal malrotation, and lower limb defects.

Case report:

A 31-year-old primigravida presented with monochorionic monoamniotic twin pregnancy with discordant anomaly. One fetus had exomphalos, acrania, bilateral talipes, a single umbilical artery, kyphoscoliosis and a short umbilical cord, findings suggestive of limb body wall complex. An ultrasound one week later revealed an unfortunate intrauterine fetal demise of both twins. The postmortem examination confirmed the antenatal diagnosis of limb body wall complex. Since the parents were anxious to avoid any risk of recurrence in subsequent pregnancies, skin samples of both babies were sent for genetic workup. The Chromosomal Micro Array of both fetuses was reported to be normal.

Discussion:

Different pathophysiologic mechanisms have been proposed to explain the anomalies associated with limb body wall complex. These include early amnion rupture, vascular disruption, and embryonic maldevelopment. Differential diagnosis must be made with isolated gastroschisis, isolated omphalocele, and other polymalformative syndromes such as pentalogy of Cantrell.

Conclusion:

Early morphological assessment of the fetus at the time of the first-trimester screening scan can be of utmost importance to diagnose a polymalformative syndrome, which may be incompatible with life. An omphalocele, even in the absence of genetic or chromosomal abnormalities, may be associated with a lethal syndrome, that is, limb body wall complex. This should specifically be thought of and searched for, especially in fetuses who present with omphalocele in combination with curvature abnormalities of the spine.