Objective: To describe the audiological profile, clinical features and briefly summarize the speech and language development of a child with Kabuki syndrome (KS). KS is a rare malformation syndrome that usually presents with mental retardation and multiple congenital anomalies including ear diseases and hearing loss.
Design: Case report
Setting: Tertiary Public University Hospital
Subject: One patient
Results: A five-year-old female diagnosed with KS at age three presented with moderate to severe conductive hearing loss in the right ear with a drop at the high frequencies and moderate to severe conductive sloping hearing loss in the left ear. She also had fluctuating tympanometric findings. She was fit with binaural hearing aids.
Conclusion: Ear diseases and hearing loss should immediately be considered in patients diagnosed with KS. A comprehensive audiological and otolaryngological evaluation should also be performed when presented with a KS case.