Literature DB >> 10069716

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.

B R Schulze1, D Horn, A Kobelt, G Tariverdian, A Stellzig.   

Abstract

Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.

Entities:  

Mesh:

Year:  1999        PMID: 10069716     DOI: 10.1002/(sici)1096-8628(19990219)82:5<429::aid-ajmg13>3.0.co;2-s

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  15 in total

1.  Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.

Authors:  Z Zeng; J R Shaffer; X Wang; E Feingold; D E Weeks; M Lee; K T Cuenco; S K Wendell; R J Weyant; R Crout; D W McNeil; M L Marazita
Journal:  J Dent Res       Date:  2013-03-07       Impact factor: 6.116

Review 2.  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

3.  A locus for isolated cataract on human Xp.

Authors:  P J Francis; V Berry; A J Hardcastle; E R Maher; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

4.  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

5.  Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata.

Authors:  Jiwoon Lee; Bum-Kyu Lee; Jeffrey M Gross
Journal:  Hum Mol Genet       Date:  2013-05-12       Impact factor: 6.150

6.  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

7.  Characterization of Bcor expression in mouse development.

Authors:  Joseph A Wamstad; Vivian J Bardwell
Journal:  Gene Expr Patterns       Date:  2007-01-31       Impact factor: 1.224

8.  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

9.  Epigenetic regulation of mesenchymal stem cells: a focus on osteogenic and adipogenic differentiation.

Authors:  Chad M Teven; Xing Liu; Ning Hu; Ni Tang; Stephanie H Kim; Enyi Huang; Ke Yang; Mi Li; Jian-Li Gao; Hong Liu; Ryan B Natale; Gaurav Luther; Qing Luo; Linyuan Wang; Richard Rames; Yang Bi; Jinyong Luo; Hue H Luu; Rex C Haydon; Russell R Reid; Tong-Chuan He
Journal:  Stem Cells Int       Date:  2011-07-11       Impact factor: 5.443

10.  BCOR regulates mesenchymal stem cell function by epigenetic mechanisms.

Authors:  Zhipeng Fan; Takayoshi Yamaza; Janice S Lee; Jinhua Yu; Songlin Wang; Guoping Fan; Songtao Shi; Cun-Yu Wang
Journal:  Nat Cell Biol       Date:  2009-07-05       Impact factor: 28.824

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