Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis

ISSN
1063-4584
Date Issued
2020
Author(s)
Rolvien, T
Yorgan, T A
Hermans-Borgmeyer, I
Mundlos, S
Schmidt, T
Niemeier, A
Schinke, T
Amling, M
Oheim, R
DOI
10.1016/j.joca.2019.12.011
Abstract
Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia, can be a result of mutations in the collagen, type II, alpha 1 (COL2A1) gene. However, the bone involvement (e.g., density, microstructure) in this disorder has hitherto not been studied.