Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp304 | Muscle, physical activity and bone | ECTS2013

Everyday activity, important factors and quality of life in children and youths with osteogenesis imperfecta

Lowing Kristina , Hagberg Maude , Astrom Eva

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...