Bone Abstracts

Osteogenesis Imperfecta (OI) is in most cases a congenital disease of collagen. The mutations have been reported in COLIA1 and COLIA2 genes, localised to chromosomes 17 and 7 respectively. The incidence at birth is 6–20/100 000. Children and youths with OI often display a complex and heterogeneous picture with fragile skeleton, fractures, curvature in the long bones, short stature, pain and limitations in mobility and everyday activity. The impact of those factors for the...

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which mainly affects the collagen in the bone mass with fractures and deformities as the main symptoms. In OI there is a great variation in dysfunction related to the disease. Mobility and activities related to mobility are often most difficult. The objective for this study was to find a relevant, valid and reliable instrument to assess the children’s activity capability.Method and par...

The pediatric osteogenesis imperfecta (OI) team at our university hospital was established in 1991. The multi- and inter-disciplinary team consists of: pediatric neurologist, nurse, nursing assistant, physiotherapist, occupational therapist, orthopedic surgeon, orthotist, radiologist, dentist and geneticist. We also have a close collaboration with other specialists.Our assignment is high qualified diagnostics, functional assessments and also individualiz...