A case report: Hearing disorder in Kabuki make-up (Niikawa-Kuroki) syndrome in China

The study reports a case of a 5-year-old Chinese girl diagnosed with Kabuki make-up Syndrome (KMS). The patient showed classic KMS appearance: widely separated eyes, ectropion of lateral one-third lower eyelids, flat nasal tip, and prominent ears. Auditory features in this individual included bilateral severe sensorineural hearing loss and lack of 40 Hz AERP responses identified at 1 year of age. The individual received cochlear implant (CI) in the left ear when 5 years old, and rehabilitation after CI treatment were 3 in speech intelligibility and 5 in auditory performance. Thus, our findings suggest that cochlear implant may be helpful to restore hearing for individuals with Kabuki syndrome.