Bone Abstracts

Background: Osteogenesis imperfecta (OI) as a rare disease is characterized by reduced bone mass, increased fracture rate, bone deformities and skeletal pain.Currently patients are treated with i.v. bisphosphonates regardless of the underlying mutation.Recently the gene causing OI type VI was described (SERPINF-1, altered RANKL-pathway). This leads to a new understanding of the underlying pathophysiology and offered a new therapeut...

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased fracture rate and bone deformities. Patients are classified by phenotype and most are affected by mutations in COL1A1/2.Patients with OI type V present with specific clinical symptoms including hyperplastic callus formation, only mildly decreased height, metaphyseal lines and a calcification of the membrane interossea of the forearm. The disease causing mutation for OI ...

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...

Osteogenesis imperfecta is a rare disease leading to multiple fractures, skeletal deformities and scoliosis due to a reduced bone mass. Pathological fractures caused by inadequate traumata are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. At present no approved drugs for OI treatment in childhood are available. A single centre prospective pilot study was performed to assess safety and effic...