ba0003pp362 | Other diseases of bone and mineral metabolism | ECTS2014
Hald Jannie Dahl
, Folkestad Lars
, Andersen Jane
, Harslof Torben
, Lund Allan
, Jens-Erik Beck Jensen
, Brixen Kim
, Langdahl Bente
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...