Maroteaux P, Frézal J, Cohen-Solal L, Bonaventure J
Arch Fr Pediatr. 1986 Apr;43(4):235-41.
A classification of the different types of osteogenesis imperfecta is proposed. There are 3 main groups: the lethal type, the severe type and the so-called regressive type, with a more favorable course. This classification was established to allow for a more precise definition of the prognosis at the time of birth, or even in utero when diagnosis is made by ultrasonography. It should also allow for better classification of the data obtained by the study of the molecular collagen. This project is different from Sillence's one by the exclusion of type II B lethal types, which are often compatible with survival. In view of the frequent occurrence of a dominant mutation in the type II A, the more generally accepted recessive transmission is discussed.
提出了一种成骨不全不同类型的分类方法。主要有3组:致死型、重型和所谓的退行型,其病程较为良好。建立这种分类是为了在出生时,甚至在通过超声诊断的子宫内,能够更精确地定义预后。它还应能更好地对通过分子胶原蛋白研究获得的数据进行分类。该项目与西伦斯的项目不同之处在于排除了II B型致死类型,这些类型通常与存活相容。鉴于II A型中显性突变的频繁发生,讨论了更普遍接受的隐性遗传。