Literature DB >> 30484210

Radiculomegaly of canines in oculofaciocardiodental syndrome.

Song Hee Oh1, Ju Han Kang1, Ju Hee Kang1, Yu-Kyeong Seo1, Sae Rom Lee1, Yong-Suk Choi1, Eui-Hwan Hwang2.   

Abstract

Oculofaciocardiodental (OFCD) syndrome is a rare genetic disease, first reported by Hayward in 1980. This syndrome presents with various ocular, facial, cardiac, and dental symptoms, including congenital cataract, dysmorphic facial features, congenital heart disease, and enlarged roots, respectively. The most important criteria for the diagnosis of OFCD syndrome are dental abnormalities, especially extreme elongation of canine roots. Here, we report detailed analysis of the dentofacial region, as well as ocular, facial, cardiac, and dental findings in a female with OFCD syndrome. To the best of our knowledge, the patient in this case is the first such patient reported in South Korea.

Entities:  

Keywords:  BCOR; Macrodontia; Oculofaciocardiodental syndrome; Oligodontia; Radiculomegaly

Year:  2018        PMID: 30484210     DOI: 10.1007/s11282-018-0356-6

Source DB:  PubMed          Journal:  Oral Radiol        ISSN: 0911-6028            Impact factor:   1.852


  17 in total

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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
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Authors:  R J Gorlin; A H Marashi; H L Obwegeser
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4.  Three cases of oculo-facio-cardio-dental (OFCD) syndrome.

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Authors:  J R Hayward
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Authors:  Jinglei Cai; Sungwook Kwak; Jong-Min Lee; Eun-Jung Kim; Min-Jung Lee; Gi-Hee Park; Sung-Won Cho; Han-Sung Jung
Journal:  Cell Tissue Res       Date:  2010-06-20       Impact factor: 5.249

7.  Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Authors:  Asli Sirmaci; Michail Spiliopoulos; Francesco Brancati; Eric Powell; Duygu Duman; Alex Abrams; Guney Bademci; Emanuele Agolini; Shengru Guo; Berrin Konuk; Asli Kavaz; Susan Blanton; Maria Christina Digilio; Bruno Dallapiccola; Juan Young; Stephan Zuchner; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2011-07-21       Impact factor: 11.025

8.  Radiculomegaly of permanent canines: report of endodontic treatment in OFCD syndrome.

Authors:  M Maden; A Savgat; G Görgül
Journal:  Int Endod J       Date:  2010-09-06       Impact factor: 5.264

9.  A case of oculo-facio-cardio-dental syndrome with integrated orthodontic-prosthodontic treatment.

Authors:  Tatsuo Kawamoto; Nobuyoshi Motohashi; Kimie Ohyama
Journal:  Cleft Palate Craniofac J       Date:  2004-01

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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  1 in total

1.  A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.

Authors:  Qian Hu; Jingqun Mai; Qinqin Xiang; Bin Zhou; Shanling Liu; Jing Wang
Journal:  BMC Pediatr       Date:  2022-02-07       Impact factor: 2.125

  1 in total

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