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Axenfeld's syndrome associated with systemic abnormalities.

D R Brear, M S Insler

Annals of Ophthalmology

|May 1, 1985

Summary

This case report details Axenfeld's syndrome in a woman with skeletal, auditory, and cardiac issues. It highlights a previously undocumented link between Axenfeld's syndrome and tetralogy of Fallot.

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Area of Science:

Ophthalmology
Genetics
Cardiology

Background:

Axenfeld's syndrome is a rare congenital eye disorder characterized by posterior corneal adhesions.
Patients with Axenfeld's syndrome may present with various systemic anomalies.
The genetic basis and full spectrum of associated conditions are not entirely understood.

Observation:

A 29-year-old woman with Axenfeld's syndrome was evaluated.
The patient exhibited multiple skeletal and auditory abnormalities.
Significant cardiac anomalies were also noted during the examination.

Findings:

The ocular findings were consistent with Axenfeld's syndrome.
The patient presented with a constellation of previously unreported systemic malformations.
Tetralogy of Fallot was identified as a co-occurring cardiac anomaly.

Implications:

This case expands the known phenotypic spectrum associated with Axenfeld's syndrome.
The findings suggest a potential genetic linkage between Axenfeld's syndrome and complex congenital heart disease.
Further research is warranted to elucidate the underlying mechanisms and genetic factors involved.

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