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Research Papers

The articles listed below was free to view at the time of publication. No articles behind paywalls are on this list. Therefore this is not a complete list of all relevant research into OI.

2024

Introduction to Bone Fragility syndromes
A new Dyadic Naming System for OI and Bone Fragility syndromes
Bone fragility is shared with many other rare disorders
Digenic Inheritance of OI and Bone Fragility in some families
Recognising Sex-Linked inheritance and its consequence for families
Multidisciplinary Care Clinics have revolutionized care of people with OI.

Read moreabout Osteogenesis Imperfecta And Bone Fragility in 2024

Osteogenesis Imperfecta (OI) means “bones formed imperfectly”. It is a genetic condition that someone is born with and will always carry throughout their life. It primarily affects the bones, causing them to be fragile.

Read moreabout Osteogenesis Imperfecta Explained

OI is usually diagnosed as a result of family history and/or clinical observation. In most cases OI will be detected early on in a child’s life as a result of the child having a number of fractures. In addition to this some key clinical observations may be present such as:

Read moreabout OI Diagnosis

Osteogenesis imperfecta (OI) is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen (the major protein in bone and skin). Collagen is the major protein of the body’s connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal, leading to weak bones that fracture easily.

Read moreabout Causes

OI is treated primarily by managing fractures and promoting as much mobility and independence as possible. Prolonged immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short-term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.

Read moreabout Research and Treatments

What is a fracture?

A fracture is a break in the bone or cartilage. It usually is a result of trauma.

It can, however, be a result of disease of the bone that leads to weakening, such as osteoporosis, or abnormal formation of the bone from congenital diseases at birth, such as osteogenesis imperfecta.

Read moreabout Types of Fractures

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Read moreabout Glossary of Terms

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