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Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it.<\/jats:p>","DOI":"10.1177\/014556131209100115","type":"journal-article","created":{"date-parts":[[2019,1,9]],"date-time":"2019-01-09T15:12:19Z","timestamp":1547046739000},"page":"E8-E9","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Orofaciodigital Syndrome"],"prefix":"10.1177","volume":"91","author":[{"given":"Baris","family":"Naiboglu","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Haydarpasa Numune Education and Research Hospital, \u0130stanbul, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cagatay","family":"Oysu","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Haydarpasa Numune Education and Research Hospital, \u0130stanbul, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanju","family":"Gokceer","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Haydarpasa Numune Education and Research Hospital, \u0130stanbul, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,1,1]]},"reference":[{"key":"bibr1-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32032"},{"key":"bibr2-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196411192712101"},{"issue":"5","key":"bibr3-014556131209100115","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1542\/peds.37.5.812","volume":"37","author":"Wahrman J","year":"1966","journal-title":"Pediatrics"},{"issue":"4","key":"bibr4-014556131209100115","first-page":"209","volume":"55","author":"Papillon-Leage M","year":"1954","journal-title":"Revue Stomatol"},{"key":"bibr5-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(62)80143-7"},{"key":"bibr6-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027672"},{"key":"bibr7-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.116"},{"key":"bibr8-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.84"},{"key":"bibr9-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<389::AID-AJMG8>3.0.CO;2-L"},{"key":"bibr10-014556131209100115","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30751"}],"container-title":["Ear, Nose &amp; Throat Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/014556131209100115","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/014556131209100115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T18:37:19Z","timestamp":1777401439000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/014556131209100115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1177\/014556131209100115"],"URL":"https:\/\/doi.org\/10.1177\/014556131209100115","relation":{},"ISSN":["0145-5613","1942-7522"],"issn-type":[{"value":"0145-5613","type":"print"},{"value":"1942-7522","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}