成骨不全是较少见的中胚叶遗传性疾病,亦称为骨脆症、脆骨病或 Lobstein(洛布斯坦氏病。骨质脆、兰色巩膜和耳硬化症为此病三大特征。患者可以具有三个主要症状中的任何一个症状或全部症状。主要的病理改变为骨皮质薄、骨小梁细小而稀疏,故临床主要表现为多发性骨折。 Osteogenesis imperfecta is a less common mesoderm inherited disease, also known as bone fragility, brittle bone disease, or Lobstein’s disease. Three major characteristics of this disease are brittle bone, blue sclera, and otosclerosis. The patient may have any one or all of the three main symptoms.The main pathological changes are thin cortical bone and small and sparse trabecular bone, so the main clinical manifestations are multiple fractures.