A new paradigm has emerged for osteogenesis imperfecta as a collagen-related 
disorder. The more prevalent autosomal dominant forms of osteogenesis imperfecta 
are caused by primary defects in type I collagen, whereas autosomal recessive 
forms are caused by deficiency of proteins which interact with type I 
procollagen for post-translational modification and/or folding. Factors that 
contribute to the mechanism of dominant osteogenesis imperfecta include 
intracellular stress, disruption of interactions between collagen and 
noncollagenous proteins, compromised matrix structure, abnormal cell-cell and 
cell-matrix interactions and tissue mineralization. Recessive osteogenesis 
imperfecta is caused by deficiency of any of the three components of the 
collagen prolyl 3-hydroxylation complex. Absence of 3-hydroxylation is 
associated with increased modification of the collagen helix, consistent with 
delayed collagen folding. Other causes of recessive osteogenesis imperfecta 
include deficiency of the collagen chaperones FKBP10 or Serpin H1. Murine models 
are crucial to uncovering the common pathways in dominant and recessive 
osteogenesis imperfecta bone dysplasia. Clinical management of osteogenesis 
imperfecta is multidisciplinary, encompassing substantial progress in physical 
rehabilitation and surgical procedures, management of hearing, dental and 
pulmonary abnormalities, as well as drugs, such as bisphosphonates and 
recombinant human growth hormone. Novel treatments using cell therapy or new 
drug regimens hold promise for the future.