Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Oral Dis. 2022 Jul;28(5):1306-1326. doi: 10.1111/odi.14174. Epub 2022 Mar 5.
Clefts of the lip and palate (CLP), the major causes of congenital facial malformation globally, result from failure of fusion of the facial processes during embryogenesis. With a prevalence of 1 in 500-2500 live births, CLP causes major morbidity throughout life as a result of problems with facial appearance, feeding, speaking, obstructive apnoea, hearing and social adjustment and requires complex, multi-disciplinary care at considerable cost to healthcare systems worldwide. Long-term outcomes for affected individuals include increased mortality compared with their unaffected siblings. The frequent occurrence and major healthcare burden imposed by CLP highlight the importance of dissecting the molecular mechanisms driving facial development. Identification of the genetic mutations underlying syndromic forms of CLP, where CLP occurs in association with non-cleft clinical features, allied to developmental studies using appropriate animal models is central to our understanding of the molecular events underlying development of the lip and palate and, ultimately, how these are disturbed in CLP.
唇腭裂（CLP）是全球主要的先天性面部畸形，其病因是胚胎发育过程中面部突起未能融合。唇腭裂的患病率为每 500-2500 例活产儿中有 1 例，其终生存在严重的发病率，包括面部外观、进食、说话、阻塞性呼吸暂停、听力和社会适应方面的问题，并且需要复杂的多学科护理，这给全球的医疗保健系统带来了巨大的负担。受影响个体的长期预后包括与未受影响的兄弟姐妹相比死亡率增加。唇腭裂的频繁发生和对医疗保健造成的重大负担突显了剖析驱动面部发育的分子机制的重要性。鉴定综合征形式的唇腭裂的基因突变，其中唇腭裂与非唇裂的临床特征相关联，与使用适当的动物模型进行发育研究相结合，是我们理解唇和腭裂发育背后的分子事件以及这些事件如何在唇腭裂中受到干扰的核心。
