Fibrogenesis Imperfecta Ossium: A Collagen Defect Causing Osteomalacia

B. Frame, H. M. Frost, C. Y. Pak, W. Reynolds, R. J. Argen

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Fibrogenesis imperfecta ossium is a rare disorder that leads to generalized and progressive skeletal pain and tenderness. Radiographs show a coarsened and mottled trabecular pattern, with a spotty increase in bone density. In the third case diagnosed during life so far reported, the histologic picture and bone remodeling data obtained after a double bone-label with tetracycline demonstrated increased numbers of osteoid seams and an impaired mineralization of matrix compatible with a diagnosis of osteomalacia. There was a marked reduction in the birefringence normally seen in collagen fibers of bone under the polarizing microscope. A primary collagen defect leading to an abnormal polarization of individual collagen fibers may be the cause of the skeletal picture of osteomalacia in fibrogenesis imperfecta ossium.

Original languageEnglish (US)
Pages (from-to)769-772
Number of pages4
JournalNew England Journal of Medicine
Issue number14
StatePublished - Sep 30 1971

ASJC Scopus subject areas

  • Medicine(all)


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