Molecular Studies in Osteogenesis Imperfecta (OI)

Decreased Bone Material Strength in Severe Osteogenesis Imperfecta (oi)

Bone fragility in OI is believed to result from a combination of bone mass deficiencies and compromised material properties of the bone tissue. Little data, however, is available to describe bone material properties in individuals with OI. At the sub-microstructural scale, nanoindentation studies have found that the elastic modulus (E) of bone tissue is lower in children with severe OI (type II...

Osteogenesis imperfecta (OI), may be mistaken for child abuse.

Living with OI = Osteogenesis imperfecta = brittle bone disease

Osteogenesis imperfecta (“OI” or “Brittle bones”) is a rare genetic disorder of the connective tissue characterised by bone fragility. Other symptoms that may occur are: short stature, hearing impairment, skeletal deformities, loose joints or fragile teeth. At present OI cannot be cured. Treatment is aimed at preventing or correcting its symptoms and at the best living conditions possible for O...

Osteogenesis imperfecta--clinical and molecular diversity.

Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone a...

Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire

BACKGROUND Despite the growing interest in understanding the psycho-social impact of rare genetic diseases, few studies examine this concept and even fewer seek to obtain feedback from families who have lived the experience. The aim of this project was to involve families of children living with osteogenesis imperfecta (OI) in the development of a tool to assess the impact of OI on the lives of...