Guion-Almeida M L, Rodini E S, Kokitsu-Nakata N M, Bologna-Amantini D
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Am J Med Genet. 1998 Mar 5;76(2):133-6. doi: 10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co;2-u.
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.
我们报告了4例巴西患者，他们除了有其他体征外，还患有唇腭裂、牙齿异常、下睑外翻、睑裂增宽和兔眼症。其中2例为散发病例，2例为家族性病例，是一位母亲和她同样患病的儿子。最近，Gorlin等人[1996年；《美国医学遗传学杂志》65:109 - 112]对这些体征不同组合的报告进行了综述，并将其命名为睑裂唇齿综合征（BCD综合征）。观察到其具有可变表达性和常染色体显性遗传。
