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Osteogenesis imperfecta

Última revisión: 30 Apr 2025
Última actualización: 23 May 2024

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

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

Otros factores de diagnóstico

  • skin fragility
  • easy bruising
  • muscle weakness
  • cardiorespiratory signs and symptoms
Todos los datos

Factores de riesgo

  • family history of OI
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • skeletal survey
  • genetic testing
  • dual-energy x-ray absorptiometry (DXA)
Todos los datos

Pruebas diagnósticas que deben considerarse

  • audiology
  • spirometry
  • echocardiogram
Todos los datos

Algoritmo de tratamiento

En curso

all patients

Colaboradores

Autores

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

Divulgaciones

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

Divulgaciones

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

Revisores por pares

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

Versus Arthritis Professor of Rheumatology

University of Edinburgh

Edinburgh

UK

Divulgaciones

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

Divulgaciones

DRD declares that he has no competing interests.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

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

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.Texto completo  Resumen

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.Texto completo  Resumen

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.Texto completo  Resumen

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
  • Osteogenesis imperfecta images
  • Diferenciales

    • Nonaccidental injury
    • Idiopathic juvenile osteoporosis
    • Hypophosphatasia
    Más Diferenciales
  • Guías de práctica clínica

    • Key4OI recommendations for lung function guidance in osteogenesis imperfecta
    • Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
    Más Guías de práctica clínica
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