{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T04:27:41Z","timestamp":1725164861872},"reference-count":17,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T00:00:00Z","timestamp":1183075200000},"content-version":"unspecified","delay-in-days":4927,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Laryngol. Otol."],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:p>Commissural lip pits, pinna dysplasia, pre-auricular sinus and hearing loss constitute a recently described autosomal dominant branchial arch syndrome. In a large family, eight out of the 74 members were also affected by conductive hearing loss. No inner ear abnormalities could be demonstrated on the CT scans. In three patients (four ears) out of four patients (six ears), exploratory tympanotomy revealed serious ossicular chain anomalies. In one ear, round window aplasia was also present. Long-term hearing improvement could only be achieved in one ear.<\/jats:p>","DOI":"10.1017\/s002221510012571x","type":"journal-article","created":{"date-parts":[[2007,11,30]],"date-time":"2007-11-30T10:16:27Z","timestamp":1196417787000},"page":"13-18","source":"Crossref","is-referenced-by-count":11,"title":["The deafness, pre-auricular sinus, external ear anomaly and commissural lip pits syndrome \u2013 otological, vestibular and radiological findings"],"prefix":"10.1017","volume":"108","author":[{"given":"H. A. M.","family":"Marres","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. W. R. J.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. L. M.","family":"Huygen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. B. M.","family":"Joosten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2007,6,29]]},"reference":[{"key":"S002221510012571X_ref008","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.7.491"},{"key":"S002221510012571X_ref006","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-199310000-00021"},{"key":"S002221510012571X_ref010","article-title":"Ear surgery in the Treacher-Collins syndrome","author":"Marres","year":"1993","journal-title":"Annals of Otology, Rhinology and Laryngology"},{"key":"S002221510012571X_ref011","first-page":"168","volume-title":"Mendelian Inheritance in Man","volume":"1","author":"McKusick","year":"1992"},{"key":"S002221510012571X_ref007","first-page":"17","article-title":"The gene for Treacher-Collins syndrome maps to the long-arm of chromosome 5","volume":"49","author":"Dixon","year":"1991","journal-title":"American Journal of Human Genetics"},{"key":"S002221510012571X_ref015","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2273.1986.tb00123.x"},{"key":"S002221510012571X_ref009","first-page":"928","article-title":"Congenital conductive or mixed deafness, pre-auricular sinus, external ear anomaly and commissural lip pits: an autosomal dominant inherited syndrome","volume":"100","author":"Marres","year":"1991","journal-title":"Annals of Otorhinolaryngology"},{"key":"S002221510012571X_ref013","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04142.x"},{"key":"S002221510012571X_ref003","doi-asserted-by":"publisher","DOI":"10.1016\/0165-5876(80)90036-1"},{"key":"S002221510012571X_ref001","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1990.01870120091017"},{"key":"S002221510012571X_ref016","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1991.tb19580.x"},{"key":"S002221510012571X_ref005","doi-asserted-by":"publisher","DOI":"10.1016\/0165-5876(91)90097-U"},{"key":"S002221510012571X_ref004","doi-asserted-by":"publisher","DOI":"10.1159\/000275541"},{"key":"S002221510012571X_ref012","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01546.x"},{"key":"S002221510012571X_ref002","doi-asserted-by":"publisher","DOI":"10.1016\/S0196-0709(86)80055-2"},{"key":"S002221510012571X_ref014","unstructured":"Teunissen B. (1992) Major and minor congenital anomalies of the ear. Classification and surgical results. Thesis, University of Nijmegen, The Netherlands, pp 57\u201374"},{"key":"S002221510012571X_ref017","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1977.00780280072010"}],"container-title":["The Journal of Laryngology &amp; Otology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S002221510012571X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,15]],"date-time":"2019-05-15T20:33:51Z","timestamp":1557952431000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S002221510012571X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,1]]}},"alternative-id":["S002221510012571X"],"URL":"https:\/\/doi.org\/10.1017\/s002221510012571x","relation":{},"ISSN":["0022-2151","1748-5460"],"issn-type":[{"value":"0022-2151","type":"print"},{"value":"1748-5460","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}