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Osteogenesis imperfecta

Last reviewed: 19 Aug 2025
Last updated: 23 May 2024

Summary

Definition

Анамнез и осмотр

Ключевые диагностические факторы

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

Другие диагностические факторы

  • skin fragility
  • easy bruising
  • muscle weakness
  • cardiorespiratory signs and symptoms
Полная информация

Факторы риска

  • family history of OI
Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

  • skeletal survey
  • genetic testing
  • dual-energy x-ray absorptiometry (DXA)
Полная информация

Исследования, проведение которых нужно рассмотреть

  • audiology
  • spirometry
  • echocardiogram
Полная информация

Алгоритм лечения

ПРОДОЛЖЕНИЕ

all patients

Составители

Авторы

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

Раскрытие информации

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

Раскрытие информации

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

Рецензенты

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

Versus Arthritis Professor of Rheumatology

University of Edinburgh

Edinburgh

UK

Раскрытие информации

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

Раскрытие информации

DRD declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Список литературы

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Основные статьи

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

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.Полный текст  Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

Статьи, указанные как источники

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