Journal
JOINT BONE SPINE
Volume 81, Issue 1, Pages 83-85Publisher
ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
DOI: 10.1016/j.jbspin.2013.06.007
Keywords
Hip joint pain; Familial juvenile osteoarthritis; Premature osteoarthritis; Type II collagenopathies; COL2A1 mutation; COL2A1 Arg75Cys mutation
Categories
Ask authors/readers for more resources
Diagnostic assessment of osteoarthritis in children and adolescents is difficult. Here, we report the sixth family with a COL2A1 mutation R275C. The index patient, her mother and her three brothers had severe coxarthrosis, in some cases requiring surgery. Only the mother was hard of hearing, and only her children had brachydactyly of the fourth digit. The index patient suffered a femoral neck fracture after minor trauma at a time when osteoarthritis was not yet radiologically detectable. Hip fracture or osteoarthritis of unclear origin in childhood should prompt genetic work-up for the purposes of correct classification and genetic counseling. (C) 2013 Societe francaise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available