Holt-Oram 综合征是一种少见的以心血管和上肢畸形为特征的常染色体显性遗传病,我们发现一家3例患者,报道于下。例1(先证者),刘某,男,42岁,因剧烈活动后心悸气促2年,加重1月住院。体查:颈静脉充盈,左胸廓稍隆起,心界两侧扩大,胸骨左缘2～3肋间闻及Ⅲ/Ⅵ级收缩期吹风样杂音,双手畸形;心 B 超发现房间隔缺损,右心扩大;胸片示心脏增大呈梨形;双手照片右第1掌骨、腕、舟骨及桡骨缺如,拇指指骨发育较细,左腕、舟骨分节、桡骨关节囊脱位。例2,先证者儿子,9岁,体查发现心界稍向两侧扩大,胸骨左缘第3肋间闻及Ⅲ/Ⅵ级收缩期吹风 Holt-Oram syndrome is a rare autosomal dominant disorder characterized by cardiovascular and upper limb deformities and we found a 3-patient report below. Example 1 (proband), Liu, male, 42 years old, due to severe heart palpitations, 2-year irritation, increased hospitalization in January. Physical examination: filling of the jugular vein, a slight swelling of the left thoracic heart, both sides of the heart to expand the sternum left border 2 ~ 3 intercostal smell and Ⅲ / Ⅵ systolic hair-like murmur, hands deformity; Enlarged heart; chest showed heart-shaped pear-shaped; hands photo of the first metacarpal, wrist, scaphoid and radial absence, thumb phalanx development, left wrist, scaphoid section, radial joint capsule dislocation. Example 2, the proband’s son, 9 years old, physical examination found that the heart to expand slightly to both sides of the sternal left intercostal space smell and Ⅲ / Ⅵ systolic hair