Vieira Alexandre R, Dattilo Sheila
Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA.
J Craniofac Surg. 2018 Mar;29(2):396-399. doi: 10.1097/SCS.0000000000004080.
Cleft lip and palate is the most common craniofacial birth defect, and its etiology has been the focus of many reports in the literature. It is well accepted that both genetics and environment play a role in the condition; however, the authors still have not been able to translate what have been learned into clinical applications. This paper provides an interpretation of 2 possible mechanisms leading to cleft lip and palate in humans. First, the authors reflect on the known association between maternal cigarette smoking and risk for cleft lip and palate and the proposed hypoxic mechanism put forward to explain this association. Second, the authors reflect on the difference in frequency between left and right cleft lip and propose that without more extensive clinical definitions, it will be difficult to definitely unveil genetic targets that can be used for counseling.
唇腭裂是最常见的颅面先天性缺陷,其病因一直是文献中众多报道的焦点。遗传学和环境因素在该病中均起作用,这一点已得到广泛认可;然而,作者们仍未能将所学到的知识转化为临床应用。本文对导致人类唇腭裂的两种可能机制进行了解读。首先,作者们思考了孕妇吸烟与唇腭裂风险之间已知的关联,以及为解释这种关联而提出的缺氧机制。其次,作者们思考了左侧和右侧唇裂在发生率上的差异,并提出如果没有更广泛的临床定义,将难以确切揭示可用于咨询的遗传靶点。