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Cyclopia.

¹Department of Paediatrics and Child Health, Tikur Anbessa Hospital, PO Box 9086, Addis Ababa, Ethiopia.

Ethiopian Medical Journal

|August 7, 2004

Summary

This case report details a rare congenital anomaly, cyclopia, in a neonate with a single orbital socket and a proboscis. Further research into genetic and environmental factors is encouraged for this rare condition.

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Area of Science:

Medical Genetics
Developmental Biology
Teratology

Background:

Cyclopia is a rare congenital disorder characterized by the failure of the embryonic forebrain to divide into two orbits.
It is associated with holoprosencephaly and other severe craniofacial malformations.
The etiology is complex, with suspected genetic and environmental influences.

Observation:

A female neonate weighing 1200 grams presented with a single orbital fossa, absent globes, and a proboscis-like structure on the forehead.
The neonate was born at term to a 35-year-old mother (Para VIII).
Clinical and post-mortem examinations were conducted.

Findings:

The neonate exhibited cyclopia, a severe form of holoprosencephaly.
The presence of a proboscis further indicates the severity of the craniofacial defect.
The neonate died immediately after birth.

Implications:

This case highlights the importance of reporting rare congenital anomalies like cyclopia.
Understanding the genetic and environmental factors contributing to cyclopia is crucial for genetic counseling and potential prevention strategies.
Further case reporting and research are needed to elucidate the complex etiologies of cyclopia.

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