Nager G T
Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD.
Ann Otol Rhinol Laryngol. 1988 Nov-Dec;97(6 Pt 1):585-93. doi: 10.1177/000348948809700603.
Osteogenesis imperfecta (OI) designates a heterogeneous group of heritable disorders of connective tissue that in addition to bone may affect tendons, ligaments, fascia, skin, sclerae, blood vessels, teeth, and hearing. The current classification identifies at least four major syndrome groups or types. It also recognizes a considerable number of additional syndromes that may represent supplementary types or subgroups. Loss of hearing is the least constant of the prominent features of OI. Its incidence varies between 26% and 60%. In OI, formation and remodelling of bone are variously affected. In the temporal bone the development of the inner ear capsule may be involved severely. In the stapes the disturbance in lamellar bone formation can lead to extreme thinness, dehiscence, and nonunion of the stapedial superstructure with the footplate. Osteogenesis imperfecta can be associated with otosclerosis, another bone dysplasia with a different morphology. Otosclerosis, in turn, may interfere with sound conduction and perception. Thus, the hearing loss encountered in OI may be the result of OI, otosclerosis, or a combination of both.
成骨不全症（OI）是一组遗传性结缔组织疾病，除骨骼外，还可能影响肌腱、韧带、筋膜、皮肤、巩膜、血管、牙齿和听力。目前的分类确定了至少四个主要综合征组或类型。它还认识到相当数量的其他综合征，这些综合征可能代表补充类型或亚组。听力丧失是成骨不全症突出特征中最不常见的。其发病率在26%至60%之间变化。在成骨不全症中，骨骼的形成和重塑受到不同程度的影响。在颞骨中，内耳囊的发育可能会受到严重影响。在镫骨中，板层骨形成的紊乱可导致镫骨上部结构与足板极度变薄、裂开和不愈合。成骨不全症可能与耳硬化症相关，耳硬化症是另一种形态不同的骨发育异常。反过来，耳硬化症可能会干扰声音传导和感知。因此，成骨不全症中遇到的听力丧失可能是成骨不全症、耳硬化症或两者共同作用的结果。
