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Cyclopia: The Face Predicts the Future
Michail Matalliotakis1, Alexandra Trivli2, Charoula Matalliotaki1
1Obstetrics and Gynecology, Venizeleio General Hospital, Heraklion, GRC.
Cureus
|September 22, 2021
Summary
This case report details a cyclopic fetus diagnosed via ultrasound at 22 weeks gestation. Awareness of holoprosencephaly spectrum and genetic counseling are crucial for managing such rare congenital abnormalities.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Congenital Abnormalities
Background:
- Holoprosencephaly (HPE) is a spectrum of brain malformations, with cyclopia representing its most severe form.
- Cyclopia is characterized by a single midline orbital structure and associated facial and brain anomalies.
- Early diagnosis and genetic counseling are vital for managing pregnancies with suspected HPE.
Observation:
- A 27-year-old woman undergoing in vitro fertilization presented with a suspected case of HPE at 22 weeks gestation.
- Three-dimensional ultrasound confirmed a common orbit, indicative of cyclopia.
- Macroscopic examination revealed cyclopia, synophalmia, fused eyelids, a proboscis, and a malpositioned ear.
Findings:
- The fetus exhibited severe brain maldevelopment and microcephaly, consistent with cyclopia.
- Despite normal parental karyotyping, the fetal abnormality was significant.
- The congenital abnormality was incompatible with life, leading to pregnancy termination.
Implications:
- This case underscores the importance of recognizing the diverse sonographic features of cyclopia and related disorders.
- Accurate prenatal diagnosis and comprehensive genetic counseling can significantly impact the management of current and future pregnancies.
- Further research into the etiopathogenesis of HPE is needed to improve outcomes for affected families.
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