Osteogenesis imperfecta
Introduction
Osteogenesis imperfecta (OI) or brittle bone disease is a genetic disorder characterized by extreme bone fragility. It can also cause muscle weakness, dental and spinal problems, and hearing loss. OI can be caused by one or several mutations in genes mostly related to the production of collagen, a protein that confers strength to the bones. OI management must be multidisciplinary and adapted, and it will depend on the degree of disease severity and bone fragility.
Summary
This medical book was ellaborated by a team of osteogenesis imperfecta experts from Sant Joan de Déu Barcelona Children's Hospital led by Dr. Rosa Bou and families of patients from the Spanish association AHUCE. The present material will address topics such as the genetic origin of the disease and the problems caused by mutations at the cellular level, bone disorders, orthopedic, orocranial, eye or ear problems, available treatments, physical rehabilitation and other issues. The content of this book will be reviewed periodically to keep it up to date. If you think that we should include any other information, please email us at info@share4rare.org.