Abstract :
Cyclopia is a rare congenital disorder characterized by the fusion of the eyes, typically as part of holoprosencephaly, resulting from a failure of the forebrain to divide during fetal development. Occurring in approximately 1 in 13,000 to 20,000 births, many cases go undetected due to early miscarriages. The condition is associated with significant facial deformities, including an absent or severely underdeveloped nose and malformed ears. This case report details a 31-year-old woman who presented at 27 weeks of gestation with abdominal pain and bleeding. Ultrasound revealed a single-lobed brain, hypotelorism, and cyclopia in the fetus. A vaginal delivery was planned, resulting in the birth of an 800-gram baby boy with severe facial anomalies who died shortly after birth. Holoprosencephaly encompasses varying degrees of brain malformation, with cyclopia being the most severe form. The absence of effective treatments necessitates early diagnosis and potential legal abortion to prevent suffering. Risk factors include maternal dietary choices and genetic mutations, particularly in the Sonic Hedgehog (SHH) gene. Awareness and education regarding these risks are crucial for prospective parents, as early detection through ultrasound can guide management strategies and reduce harm to both the newborn and the mother.
Keyword :
Holoproencephaly, Proboscis, Cyclopia syndrome