遗传性心血管上肢畸形综合征(Holt-Oramsyndrome,HOS)系单基因常染色体显性遗传病,主要表现为先天性上肢和心脏畸形(完全型),但畸形在每个个体差异很大,最特征的表现为房间隔缺损并拇指畸形。本病少见,发病率约1/10万。现报告3例,在介绍临床表现和家系调查结果的同时,结合文献 Hereditary cardiovascular syndrome (Holt-Oramsyndrome, HOS) is a single gene autosomal dominant disease, mainly manifested as congenital upper limbs and cardiac malformations (complete type), but the deformity in each individual varies widely, most The characteristics of the performance of atrial septal defect and thumb deformity. The rare disease, the incidence of about 1/10 million. Now report 3 cases, introducing the clinical manifestations and pedigree survey results, combined with the literature