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1980年中国首次报导Holt——Oram综合征(简称HOS),自此现共报导24例,本文就其中18例现存者,分析其临床特征,讨论其遗传学和皮纹学特点,最后提出本征的实用分型意见。方法:患者18例,均符合HOS的三项诊断标准:1.呈常染色体显性遗传方式,虽有男传男型但可排除伴性遗传。2.在家族内或家族间呈有表现型不典型的人,但至少必须有一人确诊为房间隔缺损(ASD)。3.上肢骨骼畸形累及拇指、掌骨、腕骨和桡骨。结果:(1),性别比一男女比例为10∶8。(2),心血管畸形——18例中有12例有先心病。最常见的为ASD(7/12例,58%)其次为室间隔缺损(vSD)(占5/12,42%)。据阜外医院未发表
In 1980, China first reported Holt - Oram syndrome (referred to as HOS), 24 cases have been reported since then. In this paper, 18 of them are extant, analyze their clinical features, discuss their genetics and dermatoglyphics, Practical classification of levy advice. Methods: All patients had 18 cases, all of which were in line with the three diagnostic criteria of HOS: 1. An autosomal dominant inheritance pattern, although it could be ruled out by male transmission of male genotypes. 2. People with atypical manifestations within or between families, but at least one person must be diagnosed with ASD. 3. Upper limb skeletal deformities involving the thumb, metacarpal, carpal and radial. Results: (1), the sex ratio of a male to female ratio of 10:8. (2) Cardiovascular malformations - Twelve of 18 patients have congenital heart disease. The most common was ASD (7/12 cases, 58%) followed by ventricular septal defect (vSD) (5/12, 42%). Fu Wai Hospital, according to unpublished