Skip to main content

Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance

Abstract

We describe a distinctly unusual MR appearance of the cancellous bone never before described in a patient with biopsy-proven fibrogenesis imperfecta ossium.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7

References

  1. Baker SL, Turnbull HM. Two cases of a hitherto undescribed disease characterized by a gross defect in the collagen of the bone matrix. J Pathol Bacteriol 1950; 62: 132–134.

    Article  Google Scholar 

  2. Baker SL. Fibrogenesis imperfecta ossium: a generalized disease of bone characterized by defective formation of the collagen fibres of the bone matrix. J Bone Joint Surg Br 1956; 38: 378–417.

    PubMed  Google Scholar 

  3. Baker SL, Dent CE, Friedman M, Watson L. Fibrogenesis imperfecta ossium. J Bone Joint Surg Br 1966; 48: 804–825.

    PubMed  CAS  Google Scholar 

  4. Golding FC. Fibrogenesis imperfecta. J Bone Joint Surg 1968; 50: 619–622.

    PubMed  CAS  Google Scholar 

  5. Thomas J, William C, Moore TH. Fibrogenesis imperfecta ossium. Trans Am Clin Climatol Assoc 1969; 80: 54–62.

    PubMed  Google Scholar 

  6. Frame B, Frost HM, Pak CY, Reynolds W, Argen RJ. Fibrogenesis imperfecta ossium: a collagen defect causing osteomalacia. N Engl J Med 1971; 285: 769–771.

    PubMed  CAS  Article  Google Scholar 

  7. Golde D, Greipp P, Sanzenbacher L, Gralnick HR. Hematologic abnormalities in fibrogenesis imperfecta ossium. J Bone Joint Surg Am 1971; 53: 365–370.

    PubMed  CAS  Google Scholar 

  8. Camus P, Perie G, Brocheriou C, Crouzet J, Prier A, Cros F. Fibrogenesis imperfecta ossium. Study of 2 cases in the same family. Ann Med Intern 1975; 8–9: 584–589.

    Google Scholar 

  9. Swan CH, Shah K, Brewer DB, Cooke WT. Fibrogenesis imperfecta ossium. Q J Med 1976; 178: 233–253.

    Google Scholar 

  10. Christmann D, Wenger JJ, Dosch JC, Schraub M, Wackenheim A. L’ostéomalacie axiale: analyse compare avec la fibrogenèse imparfaite. J Radiol 1981; 62: 37–41.

    PubMed  CAS  Google Scholar 

  11. Pinto F, Bonucci E, Mezzelani P, Cetta G, De Sandre G. Fibrogenesis imperfecta ossium: clinical, biochemical and ultrastructural investigations. Ital J Orthop Traumatol 198; 7: 371–385.

    PubMed  CAS  Google Scholar 

  12. Byron M, Woods CG, Smith R. Fibrogenesis imperfecta ossium. Metab Bone Dis Relat Res 1984; 5: 211.

    Article  Google Scholar 

  13. Stoddart PGP, Wickremaratchi T, Hollingworth P, Watt I. Fibrogenesis imperfecta ossium. Br J Radiol 1984; 57: 744–751.

    PubMed  CAS  Article  Google Scholar 

  14. Byers PD, Stamp TCB, Stoker DJ. Case report 296. Skeletal Radiol 1985; 13: 72–76.

    PubMed  Article  CAS  Google Scholar 

  15. Connor R. Case of the season. Semin Roentgenol 1985; 20: 325–326.

    Article  Google Scholar 

  16. Stamp TC, Byers PD, Ali SY, Jenkins MV, Willoughby JM. Fibrogenesis imperfecta ossium: remission with melphalan. Lancet 1985; 1: 582–583.

    PubMed  Article  CAS  Google Scholar 

  17. Lang R, Vignery AM, Jensen PS. Case report. Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. Bone 1986; 7: 237–246.

    PubMed  Article  CAS  Google Scholar 

  18. Ralphs JR, Stamp TC, Dopping-Hepenstal PJ, Ali SY. Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium. Bone 1989; 10: 243–249.

    PubMed  Article  CAS  Google Scholar 

  19. Lafage-Proust MH, Schaeverbeke T, Dehais J. Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. Calcif Tissue Int 1996; 59: 240–244.

    PubMed  Article  CAS  Google Scholar 

  20. Wang CS, Steinbach LS, Campbell JB, Hayashi G, Sangwook TY, Johnston JO. Fibrogenesis imperfecta ossium: imaging correlation in three new patients. Skeletal Radiol 1999; 28: 390–395.

    PubMed  Article  CAS  Google Scholar 

  21. Sissons H. Fibrogenesis imperfecta ossium (Baker’s disease): a case studied at autopsy. Bone 2000; 27: 865–873.

    PubMed  Article  CAS  Google Scholar 

  22. Carr AJ, Smith R, Athanasou N, Woods CG. Fibrogenesis imperfecta ossium. J Bone Joint Surg Br 1995; 77: 820–829.

    PubMed  CAS  Google Scholar 

  23. Boyce BF, Smith L, Fogelman I, Johnston E, Ralston S, Boyle IT. Focal osteomalacia due to low-dose diphosphonate therapy in Paget’s disease. Lancet 1984; 1: 821–824.

    PubMed  Article  CAS  Google Scholar 

  24. Vande Berg BC, Malghem J, Goffin EJ, Duprez TP, Maldague BP. Transient epiphyseal lesions in renal transplant recipients: presumed insufficiency stress fractures. Radiology 1994; 191: 403–407.

    Google Scholar 

  25. Ikemura S, Yamamoto T, Nakashima Y, Shuto T, Jingushi S, Iwamoto Y. Bilateral subchondral insufficiency fracture of the femoral head after renal transplantation: a case report. Arthritis Rheum 2005; 52: 1293–1296.

    PubMed  Article  Google Scholar 

  26. Legroux Gerot I, Demondion X, Louville AB, Delcambre B, Cortet B. Subchondral fractures of the femoral head: a review of seven cases. Joint Bone 2004; 71: 131–135.

    Article  Google Scholar 

  27. Gardeniers JWM. The ARCO perspective for reaching one uniform staging system of osteonecrosis. In: Scoutens A, Arlet J, Gardeniers JWM, Hughes SPF, editors. Bone circulation and vascularization in normal and pathologic conditions. New York: Plenum Press; 1993. p. 375–380.

    Google Scholar 

  28. Koo K-H, Kim R, Kim Y-S, et al. Risk period for developing osteonecrosis of the femoral head in patients on steroid treatment. Clin Rheumatol 2002; 21: 299–303.

    PubMed  Article  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Salutario Martinez.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Coursey, C., Weber, T., Dodd, L. et al. Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance. Skeletal Radiol 36, 1077–1084 (2007). https://doi.org/10.1007/s00256-007-0334-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00256-007-0334-2

Keywords

  • Osteomalacia
  • Imaging
  • MRI
  • Bone scintigraphy
  • Fibrogenesis imperfecta ossium
  • Insufficiency fractures
  • Monoclonal gammopathy
  • Collagen deficiency