Congenital ankyloblepharon in a newborn with an IRF6 mutation
Journal of American Association for Pediatric Ophthalmology and Strabismus(2023)
摘要
We present the case of a boy born at 41 weeks' gestational age who was found to have multiple anatomic anomalies, including abnor-malities of the oral cavity, eyelids, and digits. He had ankyloble-pharon that was localized to the lateral portion of the palpebral fissure bilaterally. Genetic testing confirmed a mutation in the inter-feron regulatory factor 6 (IRF6) gene, a known etiology for a spec-trum 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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关键词
congenital ankyloblepharon,irf6 mutation,newborn
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