Maroteaux P, Cohen-Solal L
Ann Genet. 1984;27(1):11-5.
The lethal form of osteogenesis imperfecta must be more clearly defined than it is. Early death of the child is not a sufficient criteria since it is observed in other forms compatible with survival. The authors therefore insist on the innumerable fractures of the ribs giving the particular aspect described as "bamboo ribs". These are observed in practically all cases. Heterogeneity however is undoubtful and an X-ray film is reproduced showing thin ribs without fractures in another exceptional lethal form. Genetic and very recent biochemical investigations suggest a new heterogeneity of the lethal form, even well defined clinically and radiologically. Contrary to earlier and frequent statements, it results most often from a dominant mutation, while recessive inheritance is much rarer, therefore the overall risk of recurrence much below 25%.
成骨不全的致死型必须比目前更明确地加以界定。儿童早期死亡并非充分标准，因为在其他可存活的类型中也会出现。因此，作者强调肋骨出现无数骨折，呈现出被描述为“竹节肋”的特殊外观，这在几乎所有病例中都能观察到。然而，其异质性是毋庸置疑的，文中还复制了一张X光片，显示在另一种罕见的致死型中肋骨纤细且无骨折。遗传学和最新的生化研究表明，即使在临床和放射学上已明确界定，致死型仍存在新的异质性。与早期频繁的说法相反，它大多由显性突变导致，隐性遗传则更为罕见，因此总体复发风险远低于25%。
