Literature DB >> 8911600

Blepharo-cheilo-dontic (BCD) syndrome.

R J Gorlin1, H Zellweger, M W Curtis, H R Wiedemann, M Warburg, F Majewski, G Gillessen-Kaesbach, B Prahl-Andersen, E Zackai.   

Abstract

Patients with the autosomal dominant ble-pharo-cheilo-dontic (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym "Elschnig syndrome" (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genée-Wiedemann syndrome), and a syndrome reported briefly by Warburg.

Entities:  

Mesh：

Year:  1996        PMID： 8911600     DOI： 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N

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


  6 in total

1.  Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Authors:  Matthew G Butler; Susan L Dagenais; José L Garcia-Perez; Pascal Brouillard; Miikka Vikkula; Peter Strouse; Jeffrey W Innis; Thomas W Glover
Journal:  Am J Med Genet A       Date:  2012-03-09       Impact factor: 2.802

2.  DLX4 is associated with orofacial clefting and abnormal jaw development.

Authors:  Di Wu; Shyamali Mandal; Alex Choi; August Anderson; Michaela Prochazkova; Hazel Perry; Vera L Gil-Da-Silva-Lopes; Richard Lao; Eunice Wan; Paul Ling-Fung Tang; Pui-yan Kwok; Ophir Klein; Bian Zhuan; Anne M Slavotinek
Journal:  Hum Mol Genet       Date:  2015-05-07       Impact factor: 6.150

3.  Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Authors:  Anneke Kievit; Federico Tessadori; Hannie Douben; Ingrid Jordens; Madelon Maurice; Jeannette Hoogeboom; Raoul Hennekam; Sheela Nampoothiri; Hülya Kayserili; Marco Castori; Margo Whiteford; Connie Motter; Catherine Melver; Michael Cunningham; Anne Hing; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Antonio Richieri-Costa; Annette F Baas; Corstiaan C Breugem; Karen Duran; Maarten Massink; Patrick W B Derksen; Wilfred F J van IJcken; Leontine van Unen; Fernando Santos-Simarro; Pablo Lapunzina; Vera L Gil-da Silva Lopes; Elaine Lustosa-Mendes; Max Krall; Anne Slavotinek; Victor Martinez-Glez; Jeroen Bakkers; Koen L I van Gassen; Annelies de Klein; Marie-José H van den Boogaard; Gijs van Haaften
Journal:  Eur J Hum Genet       Date:  2018-01-18       Impact factor: 4.246

4.  CDH1 germline mutations: different syndromes, same management?

Authors:  Patrick R Benusiglio
Journal:  Genet Med       Date:  2017-04-20       Impact factor: 8.822

5.  Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Authors:  Jamal Ghoumid; Morgane Stichelbout; Anne-Sophie Jourdain; Frederic Frenois; Sophie Lejeune-Dumoulin; Marie-Pierre Alex-Cordier; Marine Lebrun; Pierre Guerreschi; Veronique Duquennoy-Martinot; Matthieu Vinchon; Joel Ferri; Matthieu Jung; Serge Vicaire; Clemence Vanlerberghe; Fabienne Escande; Florence Petit; Sylvie Manouvrier-Hanu
Journal:  Genet Med       Date:  2017-03-16       Impact factor: 8.822

Review 6.  Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Authors:  Joana Figueiredo; Soraia Melo; Patrícia Carneiro; Ana Margarida Moreira; Maria Sofia Fernandes; Ana Sofia Ribeiro; Parry Guilford; Joana Paredes; Raquel Seruca
Journal:  J Med Genet       Date:  2019-01-19       Impact factor: 6.318
  6 in total

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