Holt——Oram氏综合征(HOS),是一种先天性心血管畸形合并上肢骨骼发育异常的常染色作显性遗传性疾病。从1960年Holt与Oram二氏首先报导本综合征。国外文献已报告200余例;国内从1989年开始已报告33例。故本综合征的实际发病率远非如此罕见,为引起同道重视和提高对本综合征的认识,就HOS的命名、发病机理、遗传学、临床表现、诊断、鉴别诊断及防治等进展情况,综述如下。命名早在1984年丹麦医生Nicolas Stenon首先报告1例先心病合并并指及挠侧畸形的患者,称为挠侧缺损,嗣后Oppenheimer等于1949年再次报导3个类似病例,但未引 Holt - Oram ’s syndrome (HOS) is an autosomal dominant dominant genetic disorder associated with congenital cardiovascular malformations. Holt and Oram from 1960 first reported this syndrome. Foreign literature has reported more than 200 cases; China has reported 33 cases since 1989. Therefore, the actual incidence of the syndrome is far from such a rare, in order to arouse the same attention and improve the understanding of the syndrome, HOS naming, pathogenesis, genetics, clinical manifestations, diagnosis, differential diagnosis and prevention and treatment progress, review as follows. Nomenclature As early as 1984, Danish doctor Nicolas Stenon first reported 1 patient with congenital heart disease complicated by deformity and deformity, called the defect of the defect, and Oppenheimer et al later reported three similar cases again in 1949 but did not quote