多发性骨软骨瘤瘤体较大,属常染色体显性遗传,常引起骨骼发育异常,造成肢体畸形,故称为遗传性畸形性软骨发育异常症（multiple cartilagenous exostosis）又名多发性软骨发育异常或干骺续连症[1,2]。本文报道一家系五代多发性骨软骨瘤及并发症,并着重讨论其遗传病因。国内尚未见类似报道。 病例报告:先证者,男35岁,已婚。自述2岁开始发现右膝关节腘窝处长有硬块,继肩胛处,肘关节等全身大关节部位均有大小不等之肿块,肿块随年龄的增大而增大。曾到当地大医院诊治,X线与临床诊断为“多发性骨软骨瘤”。查体:右腘窝处有6×5厘米的肿块,肩胛处有5×5厘米的肿 Multiple osteochondroma tumor is large, is an autosomal dominant inheritance, often cause abnormal bone development, resulting in limb deformity, it is called genetic deformity Cochlear dysplasia (multiple cartilagenous exostosis), also known as multiple cartilage dysplasia Or metaphyseal ligation [1,2]. This article reports a series of five generations of multiple osteochondroma and complications, and focuses on its genetic causes. No similar reports have been reported in China. Case report: proband, male, 35 years old, married. Read 2-year-old began to find the right knee popliteal Department have lumps, following the scapular office, elbow joints and other parts of the body have sizes ranging from lumps, lumps increase with age. Have to a large local hospital diagnosis and treatment, X-ray and clinical diagnosis of “multiple osteochondroma.” Examination: right popliteal fossa 6 × 5 cm mass, scapular 5 × 5 cm at the swollen