Literature DB >> 8723122

Oculo-facio-cardio-dental (OFCD) syndrome.

R J Gorlin1, A H Marashi, H L Obwegeser.   

Abstract

Oculo-facio-cardio-dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. Other less common findings are: sensorineural hearing loss, septate vagina, and syndactyly of toes 2-3. Inheritance may be an X-linked dominant trait, lethal in the male.

Entities:  

Mesh:

Year:  1996        PMID: 8723122     DOI: 10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G

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


  19 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.  BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.

Authors:  Piranit Nik Kantaputra
Journal:  J Hum Genet       Date:  2014-05-01       Impact factor: 3.172

3.  A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome.

Authors:  Koichi Tanaka; Akiko Kato; Chelsea Angelocci; Minoru Watanabe; Yoichi Kato
Journal:  Dev Biol       Date:  2014-01-17       Impact factor: 3.582

4.  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

5.  Genetic susceptibility to dental caries differs between the sexes: a family-based study.

Authors:  John R Shaffer; Xiaojing Wang; Daniel W McNeil; Robert J Weyant; Richard Crout; Mary L Marazita
Journal:  Caries Res       Date:  2015-01-22       Impact factor: 4.056

6.  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

Review 7.  Oculo-facio-cardio-dental (OFCD) syndrome.

Authors:  C Opitz; D Horn; R Lehmann; T Dimitrova; K Fasmers-Henke
Journal:  J Orofac Orthop       Date:  1998       Impact factor: 1.938

8.  Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.

Authors:  Yujia Zhou; Antonina Wojcik; Victoria R Sanders; Bahram Rahmani; Sudhi P Kurup
Journal:  Int Ophthalmol       Date:  2017-10-22       Impact factor: 2.031

9.  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

10.  Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Authors:  Renqian Du; Nuriye Dinckan; Xiaofei Song; Zeynep Coban-Akdemir; Shalini N Jhangiani; Yeliz Guven; Oya Aktoren; Hulya Kayserili; Lauren E Petty; Donna M Muzny; Jennifer E Below; Eric Boerwinkle; Nan Wu; Richard A Gibbs; Jennifer E Posey; James R Lupski; Ariadne Letra; Z Oya Uyguner
Journal:  Hum Genet       Date:  2018-07-26       Impact factor: 4.132

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