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目的：对骨斑点症的临床特征、发病机理及鉴别诊断进行讨论，并探讨骨斑点症的X线特征，以提高对该病的影像学认识。方法：回顾性分析6 例骨斑点症患者的临床及X线表现，其中3 例患者属于同一家族，并对1 例28 岁患者随访1 年，并复习相关文献。结果：病变好发部位为骨盆、跗骨、腕骨、指（趾）骨和长管状骨的骨骺及干骺端，影像表现为0.2~1.6 cm散在多发的大小不等的圆形或卵圆形致密阴影为特征，靠近关节面病灶较密集，大部分病灶位于松质骨内，病灶长轴与骨小梁走行相平行，密度均匀，边界清晰，相邻关节软骨骨质未见异常改变，其中4 例病灶呈双侧对称性分布。1 例随访病灶未见有明显变化。6例患者无任何症状，男女比为2:1，实验室相关检查均未见异常。结论：骨斑点症属于骨发育异常，是一种遗传性疾病，具有遗传学特点，X 线检查是发现和诊断本病的主要依据，其X 线表现具有特征性，熟悉其临床及X 线特征有助于提高对该病的诊断。

英文摘要:

Objective: To study the clinical features, pathogenesis and differential diagnosis, and explore the X-ray features of the osteopoikilosis, in order to improve the knowledge of imaging findings of the disease.Methods: 6 cases of the osteopoikilosis patients were retrospectively analyzed with clinical and X-ray findings, one patient aged 28 years was followed-up one year, and combined with other reports, and 3 cases belong to the same family.Results:Osteopoikilosis lesions in all patients mostly distributed into the pelvis, pelvis, carpus, tarsus, bones of fingers, phalanges of toes, and epiphyses and metaphyses of long tubular bones, the osteopoikilosis lesions were characterized by 0.2-1.6cm in size, scattered multiple round or oval dense shadows in spongy bones with well-defined margins, which the more close to the arhric areas, the more was dense, and the direction was identical to that of the bone trabecula. with the adjacent articular cartilage is normal, symmetrical in 4 cases. The lesions were stable in the case of follow-up observations. All the cases had not clinic symptomns, and conventional biochemical tests were normal in all cases, male to female ratio 2:1. Conclusion:Osteopoikilosis belong to bone dysplasia with genetic characteristics, the discovery of the disease and diagnosis mainly according to the X-ray examination, and X-ray manifestations of the osteopoikilosis have characteristics, familiar with these characteristics and clinical are helpful for improving the capacity for diagnosis.

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