@article{ref1,
title="Lethal osteogenesis imperfecta. Definition and heterogeneity",
journal="Annales de Génétique",
year="1984",
author="Maroteaux, P. and Cohen-Solal, L.",
volume="27",
number="1",
pages="11-15",
abstract="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 &quot;bamboo ribs&quot;. 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%.<p /><p>Language: fr</p>",
language="fr",
issn="0003-3995",
doi="",
url="http://dx.doi.org/"
}