Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome

Authors

  • Celina Ann M. Tobias Department of Otorhinolaryngology College of Medicine – Philippine General Hospital University of the Philippines Manila; Philippine National Ear Institute National Institutes of Health University of the Philippines Manila
  • Teresa Luisa Gloria-Cruz Department of Otorhinolaryngology College of Medicine – Philippine General Hospital University of the Philippines Manila; Philippine National Ear Institute National Institutes of Health University of the Philippines Manila
  • Charlotte M. Chiong Department of Otorhinolaryngology College of Medicine – Philippine General Hospital University of the Philippines Manila; Philippine National Ear Institute National Institutes of Health University of the Philippines Manila

DOI:

https://doi.org/10.32412/pjohns.v26i1.597

Keywords:

Kabuki syndrome, Niikawa-Kuroki syndrome, hearing loss, multiple anomalies

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 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.

 

Keywords: Kabuki syndrome, Niikawa-Kuroki syndrome, hearing loss, multiple anomalies

Downloads

Download data is not yet available.

Downloads

Published

2011-06-27

How to Cite

1.
Tobias CAM, Gloria-Cruz TL, Chiong CM. Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome. Philipp J Otolaryngol Head Neck Surg [Internet]. 2011 Jun. 27 [cited 2024 Apr. 13];26(1):21-6. Available from: https://pjohns.pso-hns.org/index.php/pjohns/article/view/597

Similar Articles

1 2 > >> 

You may also start an advanced similarity search for this article.

Most read articles by the same author(s)