Brown D M
Clin Orthop Relat Res. 1981 Sep(159):75-9.
Osteogenesis imperfecta is likely to be caused by primary disorders of synthesis of organic components of connective tissues accounting for clinical and laboratory observations in several affected tissues. Defects in the structure of collagen is well documented in several instances. There is no evidence of a primary disorder in the synthesis of glycosaminoglycans. Several studies of pyrophosphate metabolism and the hormonal control or the overall metabolic activity of isolated cells do not implicate a pathogenic mechanism for this disorder. Detailed biochemical and further clinical correlations are necessary in order to elucidate the pathogenesis of osteogenesis imperfecta.
成骨不全症可能是由结缔组织有机成分合成的原发性紊乱引起的，这可以解释在多个受累组织中的临床和实验室观察结果。在多个实例中，胶原蛋白结构缺陷已有充分记录。没有证据表明糖胺聚糖的合成存在原发性紊乱。几项关于焦磷酸盐代谢以及分离细胞的激素控制或整体代谢活性的研究并未表明该疾病存在致病机制。为了阐明成骨不全症的发病机制，详细的生化研究和进一步的临床关联是必要的。
