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Osteogenesis imperfecta

Last reviewed: 9 Apr 2025
Last updated: 23 May 2024

Summary

Definition

History and exam

Key diagnostic factors

  • recurrent fragility fractures
  • chronic pain
  • blue-gray sclera
  • joint laxity
  • bone deformities
  • spinal abnormalities
  • short stature
  • dental abnormalities
  • hearing loss
  • abnormal facial features
Full details

Other diagnostic factors

  • skin fragility
  • easy bruising
  • muscle weakness
  • cardiorespiratory signs and symptoms
Full details

Risk factors

  • family history of OI
Full details

Diagnostic tests

1st tests to order

  • skeletal survey
  • genetic testing
  • dual-energy x-ray absorptiometry (DXA)
Full details

Tests to consider

  • audiology
  • spirometry
  • echocardiogram
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Brendan Lee, MD, PhD

Robert and Janice McNair Endowed Chair in Molecular and Human Genetics

Professor and Chairman

Department of Molecular and Human Genetics

Baylor College of Medicine

Houston

TX

Disclosures

Baylor College of Medicine has received a research grant from Sanofi for a phase 1 clinical trial in which BL was the principal investigator (PI). The trial (NCT03064074) evaluated the safety of fresolimumab, an anti-transforming growth factor (TGF)-beta antibody therapy in development, in the treatment of moderate-to-severe osteogenesis imperfecta. The trial was funded by the National Institutes of Health Rare Diseases Clinical Research Network's Brittle Bone Disorders Consortium. Since completion of the phase 1 trial evaluating fresolimumab, BL receives license royalties on anti-TGF-beta antibody therapy for osteogenesis imperfecta via Baylor College of Medicine. Other trials of anti-TGF-beta antibody therapy for this indication are underway but BL is not involved as PI.

Sandesh C. S. Nagamani, MBBS, MD

Professor and Vice Chair for Clinical Research

Department of Molecular and Human Genetics

Baylor College of Medicine

Houston

TX

Disclosures

SCSN has received research funding from Sanofi for OI-related clinical translational research.

Peer reviewers

Stuart H. Ralston, MB ChB, MD, FRCP, FMedSci, FRSE

Versus Arthritis Professor of Rheumatology

University of Edinburgh

Edinburgh

UK

Disclosures

SHR declares supply of Teriparatide from Eli Lilly for a clinical trial in osteogenesis imperfecta. SHR is a member of the Scientific Advisory Board of the Brittle Bone Society (unpaid) and an external examiner for Oxford University for Clinical Trials MSc (personal financial). SHR declares travel expenses for meeting attendance (UCB, Kyowa Kirin, AbbVie), consultancy for Kyowa Kirin (non personal), and unrestricted educational grants to his institution from AbbVie, Accord, Novartis, Pfizer, Alexion, Amgen, Sandoz, Thornton and Ross, Janssen, Eli Lilly, and UCB.

David R. Deyle, MD

Associate Professor of Medical Genetics

Mayo Clinic

Rochester

MN

Disclosures

DRD declares that he has no competing interests.

References

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Key articles

Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-106.Full text  Abstract

Mueller B, Engelbert R, Baratta-Ziska F, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018 Sep 10;13(1):158.Full text  Abstract

Chaney H, Mekking D, De Bakker D, et al. Key4OI recommendations for lung function guidance in osteogenesis imperfecta: based on an internationally performed comprehensive international consortium for health outcomes measurement procedure. Chest. 2023 May;163(5):1201-13.Full text  Abstract

Liu W, Lee B, Nagamani SCS, et al. Approach to the patient: pharmacological therapies for fracture risk reduction in adults with osteogenesis imperfecta. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1787-96.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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  • Guidelines

    • Key4OI recommendations for lung function guidance in osteogenesis imperfecta
    • Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
    More Guidelines
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