Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
Publication/Presentation Date
1-1-2001
Abstract
Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype.
Volume
31
Issue
1
First Page
10
Last Page
18
ISSN
0301-0449
Published In/Presented At
Unger, S. L., Briggs, M. D., Holden, P., Zabel, B., Ala-Kokko, L., Paassilta, P., Lohiniva, J., Rimoin, D. L., Lachman, R. S., & Cohn, D. H. (2001). Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. Pediatric radiology, 31(1), 10–18. https://doi.org/10.1007/s002470000362
Disciplines
Medicine and Health Sciences
PubMedID
11200990
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article