Holt-Oram综合征,是指有家族性的、以房间隔缺损为多见的心血管畸形,合并以拇指或桡骨为主的上肢发育异常的一组显性遗传性疾病。此病虽早在1664年即有报道,缺损以乎桡侧为多,称为桡侧缺损,但未引起重视,嗣后Oppenheimer于1949年重加报道,以后见有散在病例报告。1960年Holt和Oram二氏报告的病例中,指出房间隔缺损和上肢畸 Holt-Oram syndrome, refers to a familial, atrial septal defect is more common in cardiovascular malformations, combined with thumb or radial-based upper limb dysplasia of a group of dominant genetic diseases. Although the disease was reported as early as 1664, the defect is almost as much as the radial side, called the radial defect, but did not pay attention to later Oppenheimer repeated in 1949 reported that there are scattered cases later see the report. In 1960, Holt and Oram II reported cases of atrial septal defects and upper limb malformations