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
Other diagnostic factors
- skin fragility
- easy bruising
- muscle weakness
- cardiorespiratory signs and symptoms
Risk factors
- family history of OI
Diagnostic tests
1st tests to order
- skeletal survey
- genetic testing
- dual-energy x-ray absorptiometry (DXA)
Tests to consider
- audiology
- spirometry
- echocardiogram
Treatment algorithm
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.
Differentials
- Nonaccidental injury
- Idiopathic juvenile osteoporosis
- Hypophosphatasia
More DifferentialsGuidelines
- Key4OI recommendations for lung function guidance in osteogenesis imperfecta
- Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
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