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Holt——Oram 综合征,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体显性遗传性疾病。从1960年 Holt 与 Oram 二氏首先报道本综合征后,陆续有一些报告。目前累积国外文献已达200余例,而国内仅见七篇报告共计为14例。我们于1982年曾遇到一家族8例,故本综合征的实际发病率远非如此罕见。为引起同道们的重视和提高对本综合征的认识,就本征的命名、遗传学规律、临床表现,诊断、鉴别诊断及防治等问题,综述如下:
Holt - Oram syndrome, an autosomal dominant inherited cardiovascular disorder characterized by skeletal dysplasia of the upper extremities. After Holt and Oram’s first report of the syndrome in 1960, there have been some reports. At present, more than 200 foreign documents have been accumulated, while only a total of seven reports in China have been reported in 14 cases. We met a family of 8 in 1982, so the actual incidence of this syndrome is far from so rare. In order to arouse the attention of the common people and to raise awareness of this syndrome, we summarize the following issues: intrinsic naming, genetics, clinical manifestation, diagnosis, differential diagnosis and prevention.