LETHAL OSTEOGENESIS IMPERFECTA

  • 1 January 1984
    • journal article
    • research article
    • Vol. 27  (1) , 11-15
Abstract
The lethal form of osteogenesis imperfecta must be more clearly defined. Early death of the child is not a sufficient criterion since it is observed in other forms compatible with survival. Innumerable fractures of the ribs, giving the particular aspect described as bamboo ribs, are a necessary criterion. These are observed in practically all cases. Heterogeneity 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, 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. Overall risk of recurrence is probably much less than 25%.