Article
[Osteogenesis imperfecta].
Revue medicale de Liege - 1 Jan 2009
Kaux J F, Le Goff C, Debray F G, Crielaard J M, Reginster J Y
Abstract excerpt
We report the case of a young boy who had had multiple bone fractures (more than 10) since the age of 19 months. The father had the same clinical history. The clinical examination was normal for his age except blue sclera. The bone densitometry showed a severe osteoporosis for his age. Biological exam swere correct. The genetic exploration revealed mutation of COL1A2 gene. With this clinical history, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.