Literature DB >> 16149826

Three cases of oculo-facio-cardio-dental (OFCD) syndrome.

Hiroyuki Tsukawaki1, Michiko Tsuji, Tatsuo Kawamoto, Kimie Ohyama.   

Abstract

OBJECTIVE: Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition with ocular, facial, cardiac, and dental disorders. The purpose of this report is to describe three Japanese female patients by using facial measurements, tooth measurements, and cephalometric analysis.
DESIGN: Facial measurements, tooth measurements, and the results of cephalometric analyses were compared with Japanese standards using panoramic roentgenograms, dental casts, and lateral cephalograms.
RESULTS: A long face and thick upper and lower lips were noted for all cases from facial measurements, and a long crown length and long dental root were noted for all cases from tooth measurements. Relative mandibular protrusion and a large anterior lower facial height, accompanied by a steep mandible and large gonial angle, were seen from the cephalometric analyses.
CONCLUSIONS: The results of a long face and long dental root were in accordance with previous reports. In addition, thick upper and lower lips, relative mandibular protrusion, large anterior lower facial height accompanied by a steep mandible, and a large gonial angle may be characterized as specific features of this syndrome.

Entities:  

Mesh:

Year:  2005        PMID: 16149826     DOI: 10.1597/04-089r.1

Source DB:  PubMed          Journal:  Cleft Palate Craniofac J        ISSN: 1055-6656


  7 in total

Review 1.  Eye development genes and known syndromes.

Authors:  Anne M Slavotinek
Journal:  Mol Genet Metab       Date:  2011-09-29       Impact factor: 4.797

2.  Radiculomegaly of canines in oculofaciocardiodental syndrome.

Authors:  Song Hee Oh; Ju Han Kang; Ju Hee Kang; Yu-Kyeong Seo; Sae Rom Lee; Yong-Suk Choi; Eui-Hwan Hwang
Journal:  Oral Radiol       Date:  2018-10-30       Impact factor: 1.852

3.  Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.

Authors:  Yong-hui Jiang; Ping Fang; Adekunle M Adesina; Patricia Furman; Jennifer J Johnston; Leslie G Biesecker; Chester W Brown
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

4.  Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.

Authors:  Thunyaporn Surapornsawasd; Takuya Ogawa; Michiko Tsuji; Keiji Moriyama
Journal:  J Hum Genet       Date:  2014-04-03       Impact factor: 3.172

5.  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

6.  New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.

Authors:  Joji Kato; Kazuhiko Kushima; Fumikazu Kushima
Journal:  Medicine (Baltimore)       Date:  2018-12       Impact factor: 1.817

7.  Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report.

Authors:  Mohammed Alhussain; Naif Almosa; Hourya Alnofaie
Journal:  Case Rep Dent       Date:  2022-03-29
  7 in total

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