Cyclopia syndrome in a 34-week foetus

Abstract

Cyclopia is a rare genetic birth defect with an incidence of approximately 1 in 13,000 to 20,000 newborns. This condition is marked by the failure of the eye orbits to properly divide, resulting in a single eye field or closely positioned eye fields. Additional features include a missing or dysfunctional nose and malformed ears. Most embryos with this condition are aborted, stillborn, or die shortly after birth. This case report discusses the 34-week pregnancy of a 36-year-old woman referred to Arifin Achmad Hospital. Ultrasound revealed midline fusion of the foetal head and thalamus, leading to an elective caesarean section. The newborn, a girl weighing 1800 g with an APGAR score of 3/4, had a single eye, no nose, and was polydactyly, and she died one day later due to respiratory failure. Holoprosencephaly, a related brain defect, results in severe craniofacial abnormalities and is categorised into alobar, semi-lobar, and lobar subtypes. Mutations in the SHH and PAX6 genes are linked to these conditions. Early diagnosis via ultrasonography and proper management are crucial to preventing harm. However, in developing countries, many cases remain undiagnosed due to the lack of regular prenatal care. Palliative care is essential for newborns with this lethal malformation, focusing on pain relief and family support.