Abstract
Fractures in patients with osteogenesis imperfecta (OI) are caused by a decreased strength of bone due to a decreased quality and quantity of bone matrix and architecture. Mutations in the collagen type 1 encoding genes cause the altered formation of collagen type I, one of the principal building blocks of bone tissue. Due to the complexity of the disease and the high variation of the clinical problems between patients, treatment for these patients should be individually tailored. In general, short immobilization periods with flexible casting material, use of intramedullary implants, and simultaneous deformity correction are preferred. Multidisciplinary care with a broad view of the support needed for the patient and his/her living environment is necessary for the optimal rehabilitation of these patients. Increasing bone strength with exercise, medication, and sometimes alignment surgery is generally indicated to prevent fractures.
Highlights
Fractures are the main characteristic in patients with osteogenesis imperfecta (OI), called “brittle bone disease”
Both histomorphometric and high-resolution peripheral quantitative computed tomography (HR-pQCT) evaluation of cancellous iliac bone biopsies in patients with OI showed fewer and thinner trabeculae [13,14,15] The Trabecular Bone Score (TBS) as measured with HR-pQCT is related to trabecular connectivity and trabecular spacing, and low TBS in peripheral bone has a strong association with individual fracture risk [16]
In addition to rehabilitation care following the acute phase of fractures or surgery, continuous guidance from a rehabilitation team is important to support children with OI in optimal development and participation in society
Summary
Fractures are the main characteristic in patients with osteogenesis imperfecta (OI), called “brittle bone disease”. OI is a genetic disorder with a disturbance of the production and structure of collagen type I, one of the main components of bone tissue. This rare bone disease has an incidence of 1 in 15,000–20,000 births [1]. The remainder of 15% has an autosomal recessive inheritance, and the mutations in these patients affect the metabolic pathway of bone formation in different ways. The list of OI types has been increasing; these additional types are clinically more or less similar to OI type 3 in terms of severity.
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