Ajacques J C, Farge P, Kerebel B
Hôpital Debrousse, Lyon.
Rev Stomatol Chir Maxillofac. 1989;90(4):259-67.
Based on four personal cases of osteogenesis imperfecta and dentinogenesis imperfecta, the authors review the semiological elements constituting the syndrome, and assign each case to the Sillence (1979) classification. The author established his classification on clinical criteria and the genetic nature of the various forms of osteogenesis imperfecta, however, the most recent discoveries concerning collagen biochemistry confirm that the condition is without doubt more heterogenous than suggested clinically, thereby better explaining the wide range of mutations encountered.
基于4例成骨不全症和牙本质生成不全症的个人病例,作者回顾了构成该综合征的症状学要素,并将每个病例归入西伦斯(1979年)分类。作者基于临床标准和各种形式成骨不全症的遗传性质建立了他的分类,然而,关于胶原蛋白生物化学的最新发现证实,这种病症无疑比临床显示的更加异质性,从而更好地解释了所遇到的广泛突变。