University of Alabama School of Medicine, Birmingham, Alabama, USA.
Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.
Blepharocheilodontic (BCD) syndrome is a rare autosomal-dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate a.u. (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392-394; Gorlin et al. (1996); Am J Med Genet 65:109-112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266-270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome.
睑裂狭小-口盖裂（BCD）综合征是一种罕见的常染色体显性遗传病，其特征为下眼睑外翻、上眼睑双行睫毛、眼睑裂过大、双侧唇裂和腭裂、以及锥形牙。该病在受累个体中表现出相当大的表型变异性。另一种罕见的相关表现是肛门闭锁（IA），已有三例报道[Guyuron 等人（1995）；J Craniofac Surg 6:392-394；Gorlin 等人（1996）；Am J Med Genet 65:109-112；da Silva Lopes 等人（2003）；Am J Med Genet Part A 121A:266-270]。我们在此报告了一个 BCD 家族，其中包括 IA，证实了肛门直肠畸形是 BCD 综合征的一部分。
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