Kurosaka Hiroshi
Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Osaka 565-0871, Japan.
Biomed Res Int. 2015;2015:901041. doi: 10.1155/2015/901041. Epub 2015 Sep 3.
Craniofacial development consists of a highly complex sequence of the orchestrated growth and fusion of facial processes. It is also known that craniofacial abnormalities can be detected in 1/3 of all patients with congenital diseases. Within the various craniofacial abnormalities, orofacial clefting is one of the most common phenotypic outcomes associated with retarded facial growth or fusion. Cleft lip is one of the representative and frequently encountered conditions in the spectrum of orofacial clefting. Despite various mechanisms or signaling pathways that have been proposed to be the cause of cleft lip, a detailed mechanism that bridges individual signaling pathways to the cleft lip is still elusive. Shh signaling is indispensable for normal embryonic development, and disruption can result in a wide spectrum of craniofacial disorders, including cleft lip. This review focuses on the current knowledge about the mechanisms of facial development and the etiology of cleft lip that are related to Shh signaling.
颅面发育由面部各突起高度复杂的协调生长与融合序列组成。众所周知,在所有先天性疾病患者中,有三分之一可检测到颅面异常。在各种颅面异常中,口面部裂隙是与面部生长迟缓或融合相关的最常见表型结果之一。唇裂是口面部裂隙谱系中具有代表性且经常遇到的病症之一。尽管已提出多种机制或信号通路作为唇裂的病因,但将个体信号通路与唇裂联系起来的详细机制仍不清楚。 Sonic Hedgehog(Shh)信号对于正常胚胎发育不可或缺,其破坏可导致包括唇裂在内的广泛颅面疾病。本综述聚焦于目前关于与Shh信号相关的面部发育机制及唇裂病因的知识。