Otological malformation in the context of cat's eye syndrome

• Autor(a) principal: Torres-García, Lidia
• Data de Publicação: 2023
• Outros Autores: Saro-Buendía, Miguel, Montoya Filardi, Alejandro, Cavallé Garrido, Laura, Guzmán Calvete, Abel, De Paula Vernetta, Carlos
• Tipo de documento: Artigo
• Idioma: eng; spa
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.34631/sporl.1087
• topic: atresia aural congénita; hipoacusia; cariotipo; congenital aural atresia; karyotype; hearing loss

Background and objective: Congenital aural atresia is a congenital defect that occurs in 1 in 10,000 to 15,000 live births. It can occur in isolation or associated with a polymalformative syndrome, including cat eye syndrome . Clinical case: This is a male born at term with anorectal malformation, bilateral microtia with agenesis of the right external auditive conduct and dysmorphic features are observed. The audiological evaluation performed demonstrates the existence of bilateral moderate-severe conductive hearing loss. The genetic study demonstrates the presence of a trisomy of chromosome 22, a genetic alteration responsible for cat eye syndrome . Discussion: Cat eye syndrome is a rare disease which presents with ocular coloboma, anal atresia and ear defects. Definitive diagnosis is based on peripheral blood karyotype. Comprehensive patient approach by a multidisciplinary team is essential, however, prognosis is usually good.