Audiological manifestations in Kabuki (Niikawa-Kuroki) Syndrome
Philippine Journal of Otolaryngology Head and Neck Surgery
;
: 21-26, 2011.
Article
in English
| WPRIM
| ID: wpr-1003454
ABSTRACT
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. @*Methods@#Design:
Case reportSetting:
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.
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Index:
WPRIM (Western Pacific)
Main subject:
Hearing Loss
Language:
English
Journal:
Philippine Journal of Otolaryngology Head and Neck Surgery
Year:
2011
Type:
Article
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