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Cyclopia: isolated and with agnathia-otocephaly complex
Lin Tun Wai1, Suresh Chandran2,3,4,5
1Department of Neonatology, Children's Hospital, Mandalay, Myanmar.
BMJ Case Reports
|September 1, 2017
Summary
This study presents two rare cases of cyclopia, a severe form of holoprosencephaly (HPE). One case also involved the agnathia-otocephaly complex (AOC), highlighting the critical need for prenatal care.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Cyclopia is a rare, lethal congenital anomaly characterized by a single eye orbit, resulting from incomplete prosencephalon cleavage during embryonic development.
- Holoprosencephaly (HPE) encompasses a spectrum of brain malformations, with cyclopia representing its most severe form.
- Agnathia-otocephaly complex (AOC) is a rare, lethal first branchial arch malformation involving mandibular agenesis, ear malposition, and microstomia.
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