Roberts syndrome with tetraphocomelia: A case report and literature review

Abstract

Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the “Establishment of cohesion 1 homolog 2” genes, resulting in the loss of acetyltransferase activities and manifesting as premature centromere separation in metaphase chromosomes. The affected individual grows slowly during pregnancy and after birth with associated mild to severe intellectual impairment. We present a 35-year-old multiparous Nigerian lady who had emergency cesarean section at 35 weeks of gestation following abruptio placentae with a live fetus. The baby had poor Apgar score at birth and died shortly afterward. Tetraphocomelia was detected on prenatal ultrasound done at about 24 weeks of gestation with other features sonographically normal. However, clinical diagnosis of severe variant of Roberts syndrome with tetraphocomelia, growth restriction, and craniofacial abnormalities were noted at birth. This case exhibits a very rare variant of Roberts syndrome with tetraphocomelia, intrauterine growth restriction, and craniofacial abnormalities. It also highlights the crucial role of detailed clinical examination and the inherent challenges in making cytogenetic diagnosis in low-income countries.