Literature DB >> 9640004

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

C Opitz1, D Horn, R Lehmann, T Dimitrova, K Fasmers-Henke.   

Abstract

The association of facial dysmorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is very rare. We describe a girl with atrial septal defect, unilateral congenital cataract, unilateral microphthalmia, radiculomegaly of incisor and canine teeth with open apices and other dental crown anomalies. This combination of symptoms clearly represents a distinct syndrome and has recently been described as oculo-facio-cardio-dental (OFCD) syndrome.

Entities:  

Mesh：

Year:  1998        PMID： 9640004     DOI： 10.1007/bf01317179

Source DB:  PubMed          Journal:  J Orofac Orthop        ISSN： 1434-5293            Impact factor:   1.938


  9 in total

1.  Radiculomegaly of canines and congenital cataracts--a syndrome?

Authors:  A H Marashi; R J Gorlin
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1990-12

2.  Radiculomegaly of canine teeth and congenital cataracts: confirmation of a syndrome.

Authors:  A H Marashi; R J Gorlin
Journal:  Am J Med Genet       Date:  1992-01-01

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

Authors:  R J Gorlin; A H Marashi; H L Obwegeser
Journal:  Am J Med Genet       Date:  1996-05-03

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

Authors:  H L Obwegeser; R J Gorlin
Journal:  Clin Dysmorphol       Date:  1997-07       Impact factor: 0.816

5.  Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

Authors:  C M Aalfs; J C Oosterwijk; M J van Schooneveld; C J Begeman; K B Wabeke; R C Hennekam
Journal:  Clin Dysmorphol       Date:  1996-04       Impact factor: 0.816

6.  A very long cuspid!

Authors:  F S Weine
Journal:  J Endod       Date:  1986-02       Impact factor: 4.171

7.  Cuspid gigantism.

Authors:  J R Hayward
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1980-06

8.  A very large maxillary cuspid.

Authors:  G J Wilkie; I G Chambers
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1990-08

9.  Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

Authors:  A O Wilkie; D Taylor; P J Scambler; M Baraitser
Journal:  Clin Dysmorphol       Date:  1993-04       Impact factor: 0.816
  9 in total
  4 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.  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

3.  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

4.  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
  4 in total

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