Pediatric Radiology

, Volume 31, Issue 1, pp 10–18

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

  • Sheila L. Unger
  • Michael D. Briggs
  • Paul Holden
  • Bernhard Zabel
  • Leena Ala-Kokko
  • Petteri Paassilta
  • Jaana Lohiniva
  • David L. Rimoin
  • R. S. Lachman
  • Daniel H. Cohn
Skeletal dysplasia issue

DOI: 10.1007/s002470000362

Cite this article as:
Unger, S., Briggs, M., Holden, P. et al. Pediatric Radiology (2001) 31: 10. doi:10.1007/s002470000362

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.

Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • Sheila L. Unger
    • 1
  • Michael D. Briggs
    • 2
  • Paul Holden
    • 2
  • Bernhard Zabel
    • 3
  • Leena Ala-Kokko
    • 4
  • Petteri Paassilta
    • 4
  • Jaana Lohiniva
    • 4
  • David L. Rimoin
    • 1
  • R. S. Lachman
    • 1
  • Daniel H. Cohn
    • 1
  1. 1.Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SSB-3, Cedars-Sinai Research Institute, 8700 Beverly Blvd., Los Angeles, CA 90048, USAUS
  2. 2.Wellcome Trust Centre for Cell-Matrix Research, School of Biological Sciences, University of Manchester, Manchester, EnglandGB
  3. 3.Children's Hospital, University of Mainz, Mainz, GermanyDE
  4. 4.Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, Oulu, FinlandFI
  5. 5.Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, USAUS
  6. 6.Department of Radiology, UCLA School of Medicine, Los Angeles, California, USAUS
  7. 7.Department of Human Genetics, UCLA School of Medicine, Los Angeles, California, USAUS

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