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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.

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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.

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