早在1664年已有报告先天性心脏病合并肢体畸形,因缺损多见于手的桡侧,曾称为桡侧缺损。1960年Holt与Oram报告家族性房间隔缺损与血管发育不良合并上肢发育不全,后者主要表现在拇指异常。故称之为Holt—Oram综合征或心房及指发育不良综合征。本文报告一个家系的两例。先证者的缺陷经心导管检查、选择性心血管造影及上肢X线照片证实。 As early as 1664 has been reported congenital heart disease with limb deformity, due to defects more common in the hand of the radial side, has been called radial defect. 1960 Holt and Oram report of atrial septal defect and vascular dysplasia with upper limb hypoplasia, the latter mainly in the thumb abnormalities. It is called Holt-Oram syndrome or aplastic anemia and syndrome. This article reports two cases of a pedigree. Defective proband catheterization, selective angiography and upper limb X-ray confirmed.