| Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities. | |
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MedLine Citation:
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PMID: 16325926 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa-Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome. |
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Authors:
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Mustafa Tekin; Suat Fitoz; Serap Arici; Ergun Cetinkaya; Armagan Incesulu |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2005-12-02 |
Journal Detail:
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Title: International journal of pediatric otorhinolaryngology Volume: 70 ISSN: 0165-5876 ISO Abbreviation: Int. J. Pediatr. Otorhinolaryngol. Publication Date: 2006 May |
Date Detail:
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Created Date: 2006-03-28 Completed Date: 2006-10-20 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8003603 Medline TA: Int J Pediatr Otorhinolaryngol Country: Ireland |
Other Details:
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Languages: eng Pagination: 885-9 Citation Subset: IM |
Affiliation:
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Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey. mtekin@medicine.ankara.edu.tr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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genetics Adolescent Child Cochlea / abnormalities* Deafness / congenital*, genetics Hearing Loss, Sensorineural / congenital*, genetics Humans Male Syndrome Vestibule, Labyrinth / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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