Gertner J M, Root L
Cornell University Medical College, New York, New York.
Orthop Clin North Am. 1990 Jan;21(1):151-62.
Osteogenesis imperfecta describes a group of heritable disorders characterized by excessive bony fragility and reduced skeletal mass. It is classified in terms of its clinical manifestations, but our understanding of the underlying genetic defects in collagen synthesis is increasing rapidly. The nonoperative and surgical orthopedic approaches to osteogenesis imperfecta aim at the maximum preservation of limb strength and the correction of deformities. Various pharmacologic agents have been administered to patients with osteogenesis imperfecta, but to date, none have proved effective in controlled trials. Prenatal diagnosis has been attempted and seems certain to assume greater importance as knowledge of the molecular genetic basis of the disease increases.
成骨不全是一组遗传性疾病，其特征为骨脆性增加和骨量减少。它根据临床表现进行分类，但我们对胶原蛋白合成中潜在基因缺陷的认识正在迅速增加。针对成骨不全的非手术和手术骨科方法旨在最大程度地保留肢体力量并矫正畸形。已对成骨不全患者使用了各种药物，但迄今为止，在对照试验中尚无一种药物被证明有效。已经尝试进行产前诊断，并且随着对该疾病分子遗传基础的了解增加，产前诊断肯定会变得更加重要。
