Page 107 - Portuguese Journal - SPORL - Vol 61. Nº1

Otological malformation in the context of

cat's eye syndrome

Clinical Case

Authors Abstract
Background and objective: Congenital aural atresia
Lidia Torres-García is a congenital defect that occurs in 1 in 10,000
Universidad de Valencia. Servicio Otorrinolaringología, to 15,000 live births. It can occur in isolation or
Hospital Universitario y Politécnico La Fe, España associated with a polymalformative syndrome,
including cat eye syndrome .
Miguel Saro-Buendía Clinical case: This is a male born at term with
Universidad de Valencia. Hospital Universitario y
Politécnico La Fe, España anorectal malformation, bilateral microtia with
agenesis of the right external auditive conduct and
Alejandro Montoya Filardi dysmorphic features are observed. The audiological
Servicio de Radiología, Hospital Universitari i evaluation performed demonstrates the existence
Politècnic La Fe, Valencia, España of bilateral moderate-severe conductive hearing
loss. The genetic study demonstrates the presence
Laura Cavallé Garrido of a trisomy of chromosome 22, a genetic alteration
Universidad de Valencia. Servicio Otorrinolaringología, responsible for cat eye syndrome .
Hospital Universitario y Politécnico La Fe. España Discussion: Cat eye syndrome is a rare disease
which presents with ocular coloboma, anal atresia
Abel Guzmán Calvete
Servicio Otorrinolaringología, Hospital Universitario and ear defects. Definitive diagnosis is based
y Politécnico La Fe. España on peripheral blood karyotype. Comprehensive
patient approach by a multidisciplinary team is
Carlos De Paula Vernetta essential, however, prognosis is usually good.
Universidad de Valencia. Servicio Otorrinolaringología, Keywords: congenital aural atresia, karyotype,
Hospital Universitario y Politécnico La Fe. España hearing loss

Introduction
Congenital aural atresia (CAA) is a birth defect
that occurs in 1 in 10,000 to 15,000 live births.
It can occur alone or in association with a
polymalformative syndrome, including cat
eye syndrome. We present a clinical case of a
patient with cat eye syndrome in which the
associated otological malformations that are
documented radiologically stand out.

Case Description
We present the case of a term born boy with
anal atresia, bilateral microtia grade I with
agenesis of the right external auditory canal
Correspondência: (EAC) (images 1 and 2) and dysmorphic facial
Lidia Torres-García
lidiatorresgarcia@gmail.com features consisting of palpebral fissures with
inferior deviation, hypertelorism and thin
upper lip. There are no other alterations.
Article received on August 30, 2022.
Accepted for publication on September 30, 2022. Pregnancy and childbirth were unremarkable.
There is parental consanguinity of the fourth

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