Authors
Nijhuis, W H; Eastwood, D M; Allgrove, J; Hvid, I; Weinans, H H; Bank, R A; Sakkers, R J
Publication Year
2019
Abstract Note
The majority of patients with osteogenesis imperfecta (OI) have mutations in the COL1A1 or COL1A2 gene, which has consequences for the composition of the bone matrix and bone architecture. The mutations result in overmodified collagen molecules, thinner collagen fibres and hypermineralization of bone tissue at a bone matrix level. Trabecular bone in OI is characterized by a lower trabecular number and connectivity as well as a lower trabecular thickness and volumetric bone mass. Cortical bone shows a decreased cortical thickness with less mechanical anisotropy and an increased pore percentage as a result of increased osteocyte lacunae and vascular porosity.
Journal
OSTEOGENESIS IMPERFECTA
Volume
Pages
11
Pubmed Link