Limb-body wall complex: a case report

Abstract

Limb-body wall complex is an extremely rare malformation usually characterised by the presence of a major anterior abdominal wall defect, limb deformities, kyphoscoliosis, an absent or short umbilical cord, and/or craniofacial defects.1 The condition is sporadic in nature, with an incidence of 1 in 7000 to 42,000 births.3 It is not usually associated with aneuploidy and there is no increased risk for patients in subsequent pregnancies. The pathogenic basis of limb-body wall complex includes: vascular disruption on the fetal side, an incomplete fusion of the amnion to the chorion, and a short or absent umbilical cord.2 Prognosis is poor with an extremely high incidence of miscarriage, preterm labour and intrauterine death. Neonatal demise is invariable.1 Differential diagnosis includes amniotic band syndrome, gastroschisis, omphalocele, and bladder exstrophy.1 We report 2 cases of limb-body wall complex diagnosed in quick succession. In both cases, the women were primigravida and diagnosed following routine dating ultrasound examinations (images to be included). Both women were healthy and there was no history of consanguity. Following assessment and counselling, in a tertiary referral centre, both women chose to terminate their pregnancies.