{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:44:18Z","timestamp":1792183458209,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T00:00:00Z","timestamp":1476403200000},"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":[[2017,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability, blepharo\u2010naso\u2010facial malformation, and hand anomalies. Almost all nine described patients have been shown to be affected by conductive hearing impairment attributed to microtia, and atresia of the outer ear canal. Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment. To our knowledge, this is the first report to describe middle ear abnormalities in VMS. These malformations were seen on high resolution Computed Tomography scanning and during an exploratory tympanotomy. Due to the severity of the middle ear abnormalities and the risk for facial nerve damage, the patient was not offered an ossicular chain reconstruction but a bone conduction device after this exploratory tympanotomy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37990","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T06:32:13Z","timestamp":1476426733000},"page":"239-244","source":"Crossref","is-referenced-by-count":5,"title":["Middle ear abnormalities in Van Maldergem syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Emmy","family":"Verheij","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery University Medical Center Utrecht Utrecht The Netherlands"},{"name":"Brain Center Rudolf Magnus University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henricus G. X. M.","family":"Thomeer","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery University Medical Center Utrecht Utrecht The Netherlands"},{"name":"Brain Center Rudolf Magnus University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank A.","family":"Pameijer","sequence":"additional","affiliation":[{"name":"Department of Radiology University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vedat","family":"Topsakal","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery University Medical Center Utrecht Utrecht The Netherlands"},{"name":"Department of Otorhinolaryngology and Head and Neck Surgery University Hospital Antwerp Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,14]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2765"},{"key":"e_1_2_4_3_1","first-page":"713","article-title":"Surgery of congenital aural atresia","volume":"16","author":"Chandrasekhar SS","year":"1995","journal-title":"Am J Otol"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.003"},{"key":"e_1_2_4_5_1","first-page":"9","article-title":"Classification of congenital aural atresia and results of reconstructive surgery","volume":"40","author":"Cremers CWRJ","year":"1988","journal-title":"Adv Otorhinolaryngol"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/mao.0b013e31815dbb28"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016489.2014.979437"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0196-0709(79)80003-4"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-199001000-00009"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.57"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.057166"},{"key":"e_1_2_4_12_1","first-page":"247","article-title":"Surgical treatment of congenital aural atresia","volume":"6","author":"Marres EHMA","year":"1985","journal-title":"Am J Otol"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoto.2015.2713"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.02.012"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e3181e8f997"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-198909000-00004"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2013.01.019"},{"key":"e_1_2_4_18_1","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1097\/MAO.0000000000000277","article-title":"Congenital middle ear abnormalities with absence of the oval window: Diagnosis, surgery, and audiometric outcomes","volume":"35","author":"Su Y","year":"2014","journal-title":"Otol Neurotol"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348949310200807"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e3182595282"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03622.x"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.25845"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10088"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04011.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37990","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37990","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37990","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:00:02Z","timestamp":1696604402000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37990"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,14]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1002\/ajmg.a.37990"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37990","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,14]]}}}