{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T17:26:11Z","timestamp":1773422771923,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,7,7]],"date-time":"2015-07-07T00:00:00Z","timestamp":1436227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8\u2010year\u2010old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:label\/><jats:p><jats:italic>Laryngoscope<\/jats:italic>, 126:992\u2013995, 2016<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.25443","type":"journal-article","created":{"date-parts":[[2015,7,7]],"date-time":"2015-07-07T16:48:54Z","timestamp":1436287734000},"page":"992-995","source":"Crossref","is-referenced-by-count":4,"title":["Congenital stapes malformation: Rare conductive hearing loss in a patient with <scp>W<\/scp>aardenburg syndrome"],"prefix":"10.1002","volume":"126","author":[{"given":"Jonathan M.","family":"Melzer","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Naval Medical Center Portsmouth Virginia U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Eliason","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Naval Medical Center Portsmouth Virginia U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George S.","family":"Conley","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Naval Medical Center Portsmouth Virginia U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,7,7]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"196","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg P","year":"1951","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940311200913"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2499"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600408.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3367"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200311000-00034"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2010.170"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2013.10.043"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.25443","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.25443","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.25443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:43:06Z","timestamp":1696556586000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.25443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,7]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["10.1002\/lary.25443"],"URL":"https:\/\/doi.org\/10.1002\/lary.25443","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,7]]}}}