{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:12:24Z","timestamp":1777522344973,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:p>Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.<\/jats:p>","DOI":"10.1597\/10-256","type":"journal-article","created":{"date-parts":[[2011,7,8]],"date-time":"2011-07-08T17:14:42Z","timestamp":1310145282000},"page":"55-60","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["Oculofaciocardiodental Syndrome: A Rare Case and Review of the Literature"],"prefix":"10.1177","volume":"49","author":[{"given":"Amirparviz","family":"Davoody","sequence":"first","affiliation":[{"name":"University of Connecticut Health Center, Department of Craniofacial Sciences, Division of Orthodontics, Farmington, Connecticut."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I-Ping","family":"Chen","sequence":"additional","affiliation":[{"name":"University of Connecticut Health Center, Department of Oral Health and Diagnostic 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