Pinto F, Bonucci E, Mezzelani P, Cetta G, De Sandre G
Ital J Orthop Traumatol. 1981 Dec;7(3):371-85.
The authors report a case of fibrogenesis imperfecta ossium (FIO). Only four cases diagnosed during life have previously been described in the literature. This is an extremely rare disease of entirely unknown aetiology. Clinical, biochemical and ultrastructural investigations were carried out. The most significant finding was the abnormal structure of the bone tissue, which was studied both by optical and electron microscopy on three successive biopsies of the iliac crest. In addition to deficient synthesis of the collagen fibrils, important anomalies related to the proteoglycans and the cellular elements were demonstrated. These have not been reported in previous cases. Some significant analogies with experimental lathyrism are also discussed.
作者报告了一例骨纤维生成不全（FIO）病例。此前文献中仅描述过4例生前确诊的病例。这是一种病因完全不明的极为罕见的疾病。进行了临床、生化及超微结构检查。最显著的发现是骨组织的异常结构，通过对髂嵴进行连续三次活检，利用光学显微镜和电子显微镜对其进行了研究。除了胶原纤维合成不足外，还证实了与蛋白聚糖和细胞成分相关的重要异常。这些在以往病例中未曾报道。还讨论了与实验性山黧豆中毒的一些显著相似之处。
