半面短小征是发病率仅次于唇腭裂的颅颌面畸形,临床表现多样,主要涉及颅眶部、耳部和下颌骨区域;发病方式以散发为主,但也有常染色体显性遗传的倾向。因此,利用分子遗传学方法定位致病染色体或基因成为当前研究重点。本文主要就半面短小综合征遗传学病因及临床表现的研究进展进行综述。 Half face short sign is the incidence of craniofacial deformity second only to cleft lip and palate, the clinical manifestations are diverse, mainly involving the cranial orbit, ear and mandible area; the pathogenesis of sporadic predisposition, but also the tendency of autosomal dominant inheritance . Therefore, the use of molecular genetic methods to locate pathogenic chromosomes or genes has become the focus of current research. This article summarizes the research progress of the genetics and clinical manifestations of half-length syndrome.