睑裂唇腭裂（BCD）综合征：扩展其表型？

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

作者信息

Gil da Silva Lopes Vera Lúcia, Guion-Almeida Maria Leine, de Oliveira Rodini Elaine Sbroggio

机构信息

Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.

出版信息

Am J Med Genet A. 2003 Sep 1;121A(3):266-70. doi: 10.1002/ajmg.a.20223.

DOI:10.1002/ajmg.a.20223

PMID:12923869

Abstract

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed.

摘要

我们描述了一个家族三代中的患病个体以及另一例散发病例，所有患者均为巴西人，他们具有一系列可诊断为BCD综合征的体征。除了主要体征外，该散发病例还患有甲状腺功能减退和肛门闭锁，此前在一名患者中也曾观察到这种情况。本文讨论了这种疾病中扩大的表型以及p63和IRF6基因受累的可能性。