Literature DB >> 9511975

Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients.

M L Guion-Almeida1, E S Rodini, N M Kokitsu-Nakata, D Bologna-Amantini.   

Abstract

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia. Two were sporadic cases and two were familial cases, a mother and her equally affected son. Recently, the reports with different combination of these signs were reviewed by Gorlin et al. [1996; Am J Med Genet 65:109-112] and named blepharocheilo-dontic (BCD) syndrome. Variable expressivity and autosomal dominant inheritance were observed.

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Year:  1998        PMID: 9511975     DOI: 10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co;2-u

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


  2 in total

1.  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 2.  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

  2 in total

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