家族性多发性骨软骨瘤病的影像诊断

Imaging diagnosis of hereditary multiple osteochondroma

目的分析家族性多发性骨软骨瘤病的影像学表现及遗传规律。方法回顾性分析3个家族24例家族性多发性骨软骨瘤病患者的临床及影像学资料。结果影像学表现为与母骨相连的骨性突起,呈菜花形、棘状、乳头状或扁平状,大小不一,好发于长管状骨的干骺端。结论家族性多发性骨软骨瘤病的典型影像学特征,对疾病的正确诊断有一定的临床价值。

Objective To analyze the imaging features of hereditary multiple osteochondroma to improve the knowledge of the disease. Methods Clinic and imaging data of 24 patients in three families with hereditary multiple osteochondroma in Lianping Hakkas were analyzed retrospectively. Results X-ray and CT appearance presented as multiple asymptomatic bony protrusion connected to the parent bone and cauliflower, spiny,papillary,flat in shape, the distribution of lesions was symmetrical or asymmetrical with different sizes. The occurrence of the bony protrusion preferentially localized in the metaphyses of the long bones, and in the femur and tibia bones. Conclusion The imaging features of osteochondroma are relatively specific. The imaging examination is of certain value in accurate di-agnoses of this disease.