Bone Abstracts

Osteogenesis imperfecta (OI) is a systemic connective tissue caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. Other symptoms are early hearing loss, abnormal dental tissue and hypermobility. It is not known whether the systemic effect of a defect collagen type 1 influences the quality of life in people with OI. We aimed to investigate health related quality of life...

Osteogenesis imperfecta (OI) is a hereditary disease with a generalized involvement of the connective tissue caused by collagen type 1 mutations. The clinical appearance is broad with fractures as the key symptom. Only few genotype–phenotype correlations have been established. We aim to characterize the Danish OI population thoroughly including DXA and HRpQCT, anthropometry, patient history, and genetic background.This cross-sectional study includes...