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Cyclopia with proboscis: A rare congenital anomaly
Asma Kunwar1, Bibek Man Shrestha2, Suraj Shrestha2
1Department of Obstetrics and Gynecology Tribhuvan University Teaching Hospital Kathmandu Nepal.
Clinical Case Reports
|July 23, 2021
Summary
Cyclopia with a proboscis is a rare congenital anomaly caused by incomplete brain hemisphere separation. Prenatal scans aid early detection, enabling timely pregnancy termination decisions.
Area of Science:
- Developmental biology
- Medical genetics
- Fetal medicine
Background:
- Holoprosencephaly represents a spectrum of brain malformations due to failed prosencephalon cleavage.
- Cyclopia, characterized by a single eye and often a proboscis, is a severe manifestation of holoprosencephaly.
- These anomalies arise during early embryonic organogenesis.
Observation:
- Incomplete separation of the prosencephalon into two hemispheres during development.
- Association of cyclopia with a proboscis and severe holoprosencephaly.
- Identification of these conditions through prenatal anomaly scans.
Findings:
- Cyclopia and severe holoprosencephaly result from a specific developmental failure in forebrain development.
- Prenatal anomaly scans are effective in detecting this rare congenital anomaly.
Implications:
- Early diagnosis allows for informed reproductive choices and timely management.
- Understanding the developmental basis aids in genetic counseling and future research.
- Highlights the importance of advanced prenatal screening for severe fetal malformations.
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