Wolf-Hirschhorn综合征简称WHS,(OMIM 194190)是一种由于4号染色体短臂末端单纯的缺失或复杂的重排所引起的较为罕见的涉及多器官的遗传病。该病最早报道于1961年[1]常有发多种畸形的发生,发病率为1:50000,由于诊断困难,其发病率较报道的要高,男女比例约为2:1[2]。本文通过我院医学遗传中心确诊的一病例,并综合有关文献,分析并讨论Wolf-Hirschhorn综合征的临床表现、 Wolf-Hirschhorn syndrome, referred to as WHS, (OMIM 194190) is a rare genetic disorder involving multiple organs caused by a simple deletion or complex rearrangement of the short arm of chromosome 4. The earliest reported disease in 1961 [1] often have a variety of malformations, the incidence rate of 1: 50000, due to difficult diagnosis, the incidence was higher than reported, the male to female ratio of about 2: 1 [2]. In this paper, a case diagnosed by medical genetics center in our hospital, and comprehensive literature, analyze and discuss the clinical manifestations of Wolf-Hirschhorn syndrome,