Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome
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...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Philippine Society of Otolaryngology-Head and Neck Surgery, Inc.
2011-06-01
|
| Series: | Philippine Journal of Otolaryngology Head and Neck Surgery |
| Subjects: | |
| Online Access: | https://pjohns.pso-hns.org/index.php/pjohns/article/view/597 |
| _version_ | 1818146281286008832 |
|---|---|
| author | Celina Ann M. Tobias Teresa Luisa Gloria-Cruz Charlotte M. Chiong |
| author_facet | Celina Ann M. Tobias Teresa Luisa Gloria-Cruz Charlotte M. Chiong |
| author_sort | Celina Ann M. Tobias |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-12-11T12:16:51Z |
| format | Article |
| id | doaj.art-6de31ef6c6cd471d947382872c2da5a3 |
| institution | Directory Open Access Journal |
| issn | 1908-4889 2094-1501 |
| language | English |
| last_indexed | 2024-12-11T12:16:51Z |
| publishDate | 2011-06-01 |
| publisher | Philippine Society of Otolaryngology-Head and Neck Surgery, Inc. |
| record_format | Article |
| series | Philippine Journal of Otolaryngology Head and Neck Surgery |
| spelling | doaj.art-6de31ef6c6cd471d947382872c2da5a32022-12-22T01:07:37ZengPhilippine Society of Otolaryngology-Head and Neck Surgery, Inc.Philippine Journal of Otolaryngology Head and Neck Surgery1908-48892094-15012011-06-0126110.32412/pjohns.v26i1.597Audiological Manifestations in Kabuki (Niikawa-Kuroki) SyndromeCelina Ann M. Tobias0Teresa Luisa Gloria-Cruz1Charlotte M. Chiong2Department 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 ManilaDepartment 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 ManilaDepartment 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 ManilaObjective: 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 anomalieshttps://pjohns.pso-hns.org/index.php/pjohns/article/view/597Kabuki syndromeNiikawa-Kuroki syndromehearing lossmultiple anomalies |
| spellingShingle | Celina Ann M. Tobias Teresa Luisa Gloria-Cruz Charlotte M. Chiong Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome Philippine Journal of Otolaryngology Head and Neck Surgery Kabuki syndrome Niikawa-Kuroki syndrome hearing loss multiple anomalies |
| title | Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome |
| title_full | Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome |
| title_fullStr | Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome |
| title_full_unstemmed | Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome |
| title_short | Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome |
| title_sort | audiological manifestations in kabuki niikawa kuroki syndrome |
| topic | Kabuki syndrome Niikawa-Kuroki syndrome hearing loss multiple anomalies |
| url | https://pjohns.pso-hns.org/index.php/pjohns/article/view/597 |
| work_keys_str_mv | AT celinaannmtobias audiologicalmanifestationsinkabukiniikawakurokisyndrome AT teresaluisagloriacruz audiologicalmanifestationsinkabukiniikawakurokisyndrome AT charlottemchiong audiologicalmanifestationsinkabukiniikawakurokisyndrome |