{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:56:34Z","timestamp":1740164194784,"version":"3.37.3"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Dentistry"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p><jats:italic>Background.<\/jats:italic>The orofaciodigital syndromes (OFDS) are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cleft or hypoplastic maxillary and mandibular alveolar ridge, oral frenula, lingual hamartoma, and absent or hypoplastic epiglottis. Dental anomalies are common and generally include disturbances in the number of teeth.<jats:italic>Case Report.<\/jats:italic>This report presents a six-year-old girl, referred with the chief complaint of missing teeth. She was diagnosed as having OFDS type IV based on clinical findings. Her parents reported three deceased children and two fetuses that had the same phenotype. She was the seventh child of consanguineous parents who were first cousins.<jats:italic>Conclusion.<\/jats:italic>This is a very rare syndrome. Many reported OFDS type IV cases have consanguineous parents, consistent with an autosomal recessive trait. Manifestation of cleft palate in the healthy sibling may be mild expression of the disorder or an unrelated isolated cleft.<\/jats:p>","DOI":"10.1155\/2014\/605892","type":"journal-article","created":{"date-parts":[[2014,12,21]],"date-time":"2014-12-21T21:00:56Z","timestamp":1419195656000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7132-9936","authenticated-orcid":true,"given":"Meltem","family":"Ozdemir-Karatas","sequence":"first","affiliation":[{"name":"Department of Maxillofacial Prosthodontics, Faculty of Dentistry, Istanbul University, Capa, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didem","family":"Ozdemir-Ozenen","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Yeditepe University, Goztepe, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. Suzanne","family":"Hart","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas C.","family":"Hart","sequence":"additional","affiliation":[{"name":"Department of Periodontics, University of Illinois at Chicago, Chicago, IL 60612, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.200"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1007\/bf00446428"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.2.116"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590317"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(67)80236-1"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440507"},{"issue":"1","key":"8","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1399-0004.1983.tb00067.x","volume":"24","year":"1983","journal-title":"Clinical Genetics"},{"year":"2001","key":"9"},{"issue":"2","key":"10","first-page":"189","volume":"10","year":"1999","journal-title":"Genetic Counseling"},{"issue":"3","key":"11","first-page":"431","volume":"14","year":"1978","journal-title":"Birth Defects"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.1.65"},{"issue":"2","key":"13","first-page":"95","volume":"2","year":"1993","journal-title":"Clinical Dysmorphology"},{"key":"14","first-page":"1","volume":"14","year":"1941","journal-title":"Avh. 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