1.
J AAPOS
; 27(1): 55-57, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36638957
RESUMO
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.
Assuntos
Anormalidades Múltiplas , Fissura Palatina , Doenças Palpebrais , Masculino , Recém-Nascido , Humanos , Pálpebras/cirurgia , Mutação , Anormalidades Múltiplas/genética , Testes Genéticos , Fissura Palatina/genética , Fissura Palatina/cirurgia , Fatores Reguladores de Interferon/genética
2.
Dig Dis Sci
; 68(3): 713-715, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36609731