Literature DB >> 16448290

Oculo-facio-cardio-dental syndrome: report of a rare case.

Hakan Türkkahraman1, Mehmet Sarioğlu.   

Abstract

Oculo-facio-cardio-dental (OFCD) syndrome is an extremely rare condition with ocular, facial, cardiac, and dental abnormalities. It is often unrecognized by many medical and dental professionals. Only 17 cases have been documented to date. Because all reported patients have been female, it has been suggested that OFCD syndrome is an X-linked dominant trait. Isolation and diagnosis of this syndrome is hard for the medical specialists. Only unique and specific findings are observed in dental and skeletal structures, which can easily be diagnosed by an orthodontist or general dentist. Therefore, it was the aim of this study to present a new case of this syndrome and to evaluate it from an orthodontic perspective in order to call the attention of orthodontists to this rare anomaly.

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Year:  2006        PMID: 16448290     DOI: 10.1043/0003-3219(2006)076[0184:OSROAR]2.0.CO;2

Source DB:  PubMed          Journal:  Angle Orthod        ISSN: 0003-3219            Impact factor:   2.079


  2 in total

1.  BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Authors:  Emma Hilton; Jennifer Johnston; Sandra Whalen; Nobuhiko Okamoto; Yoshikazu Hatsukawa; Juntaro Nishio; Hiroshi Kohara; Yoshiko Hirano; Seiji Mizuno; Chiharu Torii; Kenjiro Kosaki; Sylvie Manouvrier; Odile Boute; Rahat Perveen; Caroline Law; Anthony Moore; David Fitzpatrick; Johannes Lemke; Florence Fellmann; François-Guillaume Debray; Florence Dastot-Le-Moal; Marion Gerard; Josiane Martin; Pierre Bitoun; Michel Goossens; Alain Verloes; Albert Schinzel; Deborah Bartholdi; Tanya Bardakjian; Beverly Hay; Kim Jenny; Kathreen Johnston; Michael Lyons; John W Belmont; Leslie G Biesecker; Irina Giurgea; Graeme Black
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

2.  Oculo-facio-cardio-dental syndrome in a girl and her mother.

Authors:  Sudha Rudrappa; Rajendra Kumar; G S Kumar
Journal:  Indian J Hum Genet       Date:  2010-09
  2 in total

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