Auditory Findings in Kabuki Syndrome: Description of a Case Report

Abstract

Kabuki Syndrome (KS) is a rare disease characterised by a wide spectrum of clinical features including craniofacial, ophthalmological, auditory, cardiovascular, cognitive and neurological abnormalities, among others. We report the clinical case of a 16-year-old girl who was diagnosed with this syndrome in early childhood and has unilateral severe mixed hearing loss. In order to treat said hearing impairment, the patient received an active middle ear implant which provided her with satisfactory hearing gain and performance, as well as helping her academic, psychological and social development.