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Which brain defects accompany cyclopia?
I W Lurie1, I A Kirillova, M K Nedzved
1Byelorussian Institute of Hereditary Disease, Minsk.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1992
Summary
This study details a rare fetal condition involving cyclopia without a proboscis, aprosencephaly, and agnathia. It suggests severe forebrain anomalies can mimic cyclopia and aprosencephaly represents an early prosencephalic variant.
Area of Science:
- Developmental Biology
- Medical Genetics
- Teratology
Background:
- Holoprosencephaly encompasses a spectrum of forebrain developmental anomalies.
- Cyclopia, a severe form of holoprosencephaly, is characterized by a single midline eye.
- Aprosencephaly and agnathia are rare congenital malformations often associated with severe brain abnormalities.
Observation:
- A fetus presented with cyclopia (without a proboscis), aprosencephaly, and agnathia.
- Literature review included cases of similar congenital anomalies.
Findings:
- Severe forebrain anomalies, beyond alobar holoprosencephaly, can manifest as the brain equivalent of cyclopia.
- Aprosencephaly is proposed as the earliest known variant within the prosencephalic developmental series.
- The "agnathia-holoprosencephaly" association exhibits etiological heterogeneity.
Implications:
- Expands the understanding of the spectrum of brain abnormalities associated with cyclopia.
- Highlights aprosencephaly as a critical indicator of early prosencephalic maldevelopment.
- Suggests diverse genetic and environmental factors contribute to the agnathia-holoprosencephaly complex, impacting diagnostic and counseling approaches.