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Case Reports
. 2023 Feb;27(1):55-57.
doi: 10.1016/j.jaapos.2022.11.015. Epub 2023 Jan 11.

Congenital ankyloblepharon in a newborn with an IRF6 mutation

Olivia Uddin  1 , Jamie H Choi  1 , Erin Causey  1 , Moran R Levin  1 , Janet L Alexander  2
Affiliations
Case Reports

Congenital ankyloblepharon in a newborn with an IRF6 mutation

Olivia Uddin et al. J AAPOS. 2023 Feb.

Abstract

We present the case of a boy born at 41 weeks' gestational age who was found to have multiple anatomic anomalies, including abnormalities of the oral cavity, eyelids, and digits. He had ankyloblepharon that was localized to the lateral portion of the palpebral fissure bilaterally. Genetic testing confirmed a mutation in the interferon regulatory factor 6 (IRF6) gene, a known etiology for a spectrum of rare disorders that includes eyelid abnormalities. We present a novel surgical technique for bedside ankyloblepharon repair and describe the relevant clinical features of this case.

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Figures

FIG 1.
FIG 1.
Right (A) and left (B) ankyloblepharon prior to surgical removal. Tissue adhesions are evident in the lateral palpebral fissures. Skin folds over the nail beds (C) and oral adhesions (D) were also present at birth. Both eyes immediately following ankyloblepharon repair (E).
FIG 2.
FIG 2.
Ankyloblepharon-associated diseases inheritance patterns and associated features, based on increasing overall severity.
See this image and copyright information in PMC

References

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