| Audiological and vestibular findings in the Kabuki syndrome. | |
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MedLine Citation:
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PMID: 19161135 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Since the first description of Kabuki syndrome (KS) in 1981, over 350 cases from a variety of countries have been reported. Even though otolaryngological manifestations are common in KS, only a limited number of the reports provide audiological and vestibular data. The aim of the present study was to investigate the vestibular function and describe the audiological findings in KS. The present study reports no audiological and vestibular features in a group of 10 KS patients (7 males, 3 females), with chronological age ranging from 10 to 25 years (mean age = 14.5): a complete otoneurological and audiological work-up was performed for each patient and included where possible, the measurement of vestibular evoked potentials, caloric tests and static posturography. Hearing loss was found in 65% showing a mix or a conductive impairment; moreover the vestibular function was normal in 95% of the examined ears. In conclusion, audiological and vestibular examination should be considered when evaluating KS subjects. |
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Authors:
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S Barozzi; F Di Berardino; F Atzeri; E Filipponi; M Cerutti; A Selicorni; A Cesarani |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-01-28 Completed Date: 2009-04-06 Revised Date: 2009-04-17 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 171-6 Citation Subset: IM |
Copyright Information:
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(c) 2009 Wiley-Liss, Inc. |
Affiliation:
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Audiology Unit, IRCCS Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Department of Otolaryngology, University of Milan, Milan, Italy. stefania.barozzi@unimi.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Adolescent Adult Caloric Tests Child Evoked Potentials, Auditory Face / abnormalities Female Hearing Loss Humans Male Syndrome Vestibular Diseases / diagnosis Vestibular Function Tests Young Adult |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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