{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T05:17:00Z","timestamp":1720588620030},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T00:00:00Z","timestamp":1232582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2009=\u200914.5): a complete otoneurological and audiological work\u2010up 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. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32610","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T19:20:22Z","timestamp":1232652022000},"page":"171-176","source":"Crossref","is-referenced-by-count":13,"title":["Audiological and vestibular findings in the Kabuki syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"S.","family":"Barozzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Di Berardino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Atzeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Filipponi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cerutti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Selicorni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cesarani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,1,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30340"},{"key":"e_1_2_5_3_1","first-page":"297","article-title":"Guidelines for pure\u2010tone audiometry","volume":"20","author":"American Speech\u2010Language\u2010Hearing Association","year":"1978","journal-title":"ASHA"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1995)032<0077:KSURPI>2.3.CO;2"},{"key":"e_1_2_5_5_1","first-page":"493","article-title":"Uses and abuses of hearing loss classification","volume":"23","author":"Clark JG","year":"1981","journal-title":"ASHA"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1265"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0194-5998(01)39520-7"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<87::AID-AJMG1>3.0.CO;2-G"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1970.04310040005002"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.3.227"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049510"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10020"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1399-0004.2003.00189.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(96)01443-7"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201778"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199301000-00009"},{"key":"e_1_2_5_20_1","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1007\/BF01983409","article-title":"The Kabuki (Niikawa\u2010Kuroki) syndrome: Further delineation of the phenotype in 29 non\u2010Japanese patients","volume":"153","author":"Schrander\u2010Stumpel C","year":"1994","journal-title":"Eur J Pediatr"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-1879"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.09.025"},{"key":"e_1_2_5_23_1","first-page":"99","article-title":"Deafness and Mondini dysplasia in Kabuki (Niikawa\u2010Kuroki) syndrome. 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