Roosenboom J, Claes P, Devriendt K, Dormaar T, Peeters H, Saey I, Schoenaers J, Vander Poorten V, Verdonck A, Hens G
B-ENT. 2015;11(3):173-82.
Cleft lip and/or palate (CL/P) is one of the most frequent congenital malformations, with a frequency of 1 in 700 live births. Non-syndromic orofacial clefting is a multifactorial condition, with both a genetic and an environmental component. Although numerous studies have been published addressing the genetic etiology of CL/P, this factor remains incompletely understood. A promising approach to find candidate gene regions for CL/P is the investigation of endophenotypes, which are characteristics associated with a certain condition and that can be an expression of underlying susceptibility genes. This review focuses on the known facial endophenotypes in CL/P (such as distortion of the orbicularis oris muscle and facial features in non-affected relatives of patients with CL/P) and genes that could be associated with these characteristics. Possibilities for further endophenotype-related studies in the field of non-syndromic CL/P are discussed.
唇腭裂（CL/P）是最常见的先天性畸形之一，活产儿中发病率为1/700。非综合征性口面部裂隙是一种多因素疾病，具有遗传和环境成分。尽管已经发表了许多关于CL/P遗传病因的研究，但这一因素仍未完全了解。寻找CL/P候选基因区域的一种有前景的方法是研究内表型，内表型是与特定疾病相关的特征，可能是潜在易感基因的一种表达。本综述重点关注CL/P中已知的面部内表型（如口轮匝肌畸形和CL/P患者未患病亲属的面部特征）以及可能与这些特征相关的基因。还讨论了在非综合征性CL/P领域进一步开展与内表型相关研究的可能性。
