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...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 I 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.展开更多
文摘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 I 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.
