Otological malformation in the context of cat's eye syndrome


  • Lidia Torres-García Universidad de Valencia. Servicio Otorrinolaringología, Hospital Universitario y Politécnico La Fe, España https://orcid.org/0000-0003-2869-4959
  • Miguel Saro-Buendía Universidad de Valencia. Hospital Universitario y Politécnico La Fe, España https://orcid.org/0000-0003-4794-3615
  • Alejandro Montoya Filardi Servicio de Radiología, Hospital Universitari i Politècnic La Fe, Valencia, España
  • Laura Cavallé Garrido Universidad de Valencia. Servicio Otorrinolaringología, Hospital Universitario y Politécnico La Fe. España
  • Abel Guzmán Calvete Servicio Otorrinolaringología, Hospital Universitario y Politécnico La Fe. España https://orcid.org/0000-0001-7475-2270
  • Carlos De Paula Vernetta Universidad de Valencia. Servicio Otorrinolaringología, Hospital Universitario y Politécnico La Fe. España




atresia aural congénita, hipoacusia, cariotipo


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.


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Como Citar

Torres-García, L., Saro-Buendía, M., Montoya Filardi, A., Cavallé Garrido, L., Guzmán Calvete, A. ., & De Paula Vernetta, C. (2023). Otological malformation in the context of cat’s eye syndrome. Revista Portuguesa De Otorrinolaringologia-Cirurgia De Cabeça E Pescoço, 61(1), 107–113. https://doi.org/10.34631/sporl.1087



Caso Clínico