Literature DB >> 16829040

Oculo-facio-cardio-dental syndrome in a mother and daughter.

E McGovern1, M Al-Mudaffer, C McMahon, D Brosnahan, P Fleming, W Reardon.   

Abstract

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother.

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Mesh：

Year:  2006        PMID： 16829040     DOI： 10.1016/j.ijom.2006.05.001

Source DB:  PubMed          Journal:  Int J Oral Maxillofac Surg        ISSN： 0901-5027            Impact factor:   2.789


  12 in total

Review 1.  Oculofaciocardiodental syndrome: a rare case and review of the literature.

Authors:  Amirparviz Davoody; I-Ping Chen; Ravindra Nanda; Flavio Uribe; Ernst J Reichenberger
Journal:  Cleft Palate Craniofac J       Date:  2011-07-08

2.  Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Authors:  Sumita Danda; Vanessa A van Rahden; Deepa John; Padma Paul; Renu Raju; Santosh Koshy; Kerstin Kutsche
Journal:  Mol Syndromol       Date:  2014-08-01

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.  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

5.  Multidisciplinary treatment of non-syndromic oligodontia.

Authors:  Canan Bural; Evren Oztas; Sukru Ozturk; Gulsen Bayraktar
Journal:  Eur J Dent       Date:  2012-04

6.  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

7.  The promise of human induced pluripotent stem cells in dental research.

Authors:  Thekkeparambil Chandrabose Srijaya; Padmaja Jayaprasad Pradeep; Rosnah Binti Zain; Sabri Musa; Noor Hayaty Abu Kasim; Vijayendran Govindasamy
Journal:  Stem Cells Int       Date:  2012-05-09       Impact factor: 5.443

8.  Role of the transcriptional corepressor Bcor in embryonic stem cell differentiation and early embryonic development.

Authors:  Joseph Alan Wamstad; Connie Marie Corcoran; Anne Marjorie Keating; Vivian J Bardwell
Journal:  PLoS One       Date:  2008-07-30       Impact factor: 3.240

9.  OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.

Authors:  Michelle Y Hamline; Connie M Corcoran; Joseph A Wamstad; Isabelle Miletich; Jifan Feng; Jamie L Lohr; Myriam Hemberger; Paul T Sharpe; Micah D Gearhart; Vivian J Bardwell
Journal:  Dev Biol       Date:  2020-07-18       Impact factor: 3.148

10.  Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.

Authors:  B Lozić; J Ljubković; D Gabrić Pandurić; I Saltvig; K Kutsche; V Krželj; T Zemunik
Journal:  Braz J Med Biol Res       Date:  2012-09-18       Impact factor: 2.590
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