论文部分内容阅读
成骨不全症(Van der Hoeve综合征)是全身性骨和结缔组织常染色体显性遗传病,因在手术中常发现合并镫骨固定,故它曾被推断与耳硬化症为同一病因。Wullstein等(1960)经颞骨组织学研究后,认为此二症皆系成骨细胞的异常遗传所致,而耳硬化症乃为成骨不全症的局部表现。但Altmann & Kornfeld(1967)和Bretlau等(1969,1970)经颞骨组织学及电子显微镜观察,证明二症有所不同。Stadil(1961)对患者的镫骨作组织化学研究,表明耳硬化症的骨基质的
Osteogenesis imperfecta (Van der Hoeve syndrome) is a systemic autosomal dominant disorder of the bone and connective tissue. It has been postulated to be the same cause as otosclerosis because of the common stapes fixation found during surgery. Wullstein et al. (1960) after temporal bone histology, that these two diseases are caused by the abnormal genetic osteoblasts, and otosclerosis is a local manifestation of osteogenesis imperfecta. However, Altmann & Kornfeld (1967) and Bretlau et al. (1969, 1970) were examined by temporal bone histology and electron microscopy to show that the disease differed. Stadil (1961) histological study of the patient’s tarsal bone, indicating that the bony matrix of otosclerosis