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Related Experiment Video

Updated: Jan 25, 2026

Bile Duct Ligation in Mice: Induction of Inflammatory Liver Injury and Fibrosis by Obstructive Cholestasis
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Fibrogenesis Imperfecta Ossium.

Sanjay Kumar Bhadada1, Ruban Dhaliwal2, Vandana Dhiman3

  • 1Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. bhadadask@rediffmail.com.

Calcified Tissue International
|May 10, 2019
PubMed
Summary
This summary is machine-generated.

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Early Postoperative Intact Parathyroid Hormone Dynamics After Curative Parathyroidectomy for Sporadic Primary Hyperparathyroidism: Trajectories, Predictors of Eucalcemic PTH Elevation, and 18-Month Outcomes.

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Fibrogenesis imperfecta ossium (FIO) is a rare, fatal bone disorder. Defective collagen mineralization causes fractures and pain, with elevated alkaline phosphatase being a key sign.

Area of Science:

  • Bone Biology
  • Genetics and Rare Diseases
  • Metabolic Disorders

Background:

  • Fibrogenesis imperfecta ossium (FIO) is an extremely rare and fatal skeletal dysplasia.
  • Its etiology and pathogenesis remain poorly understood, complicating diagnosis and management.
  • The primary defect involves abnormal bone matrix collagen and defective mineralization.

Purpose of the Study:

  • To review the current understanding of Fibrogenesis imperfecta ossium.
  • To highlight diagnostic challenges and therapeutic approaches.
  • To emphasize the need for further research into FIO pathogenesis.

Main Methods:

  • Literature review of Fibrogenesis imperfecta ossium cases.
  • Analysis of clinical manifestations and biochemical findings.
Keywords:
Fragility fractureGrowth hormoneInsulin-like growth factorOsteomalaciaPseudo-fracture

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  • Review of previously attempted therapeutic interventions.

    • Main Results:

    • FIO presents in middle-aged adults with fractures and bone pain.
    • Elevated serum alkaline phosphatase is the most consistent biochemical finding.
    • Paraproteinemia occurs in one-third of cases, but its role is unclear.

    Conclusions:

    • Delayed diagnosis of FIO is common due to its rarity and resemblance to other metabolic bone diseases.
    • Previous treatments like steroids and bisphosphonates showed variable success.
    • Recombinant growth hormone therapy has shown recent promise, warranting further investigation.