ArticleMolecular syndromology2011
Osteogenesis Imperfecta: A Review with Clinical Examples.
Article in Molecular syndromology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 4 of them syntheses that pooled it.
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Who cites it
83 citing papers in PubMed, 4 syntheses or guidelines pooled it, 207 citations in OpenAlex.
- Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.Acta ophthalmologica · 2022Pooled it
- Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review.Annals of medicine · 2021Pooled it
- WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITHAfrican journal of traditional, complementary, and alternative medicines : AJTCAM · 2017Pooled it
- Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.BioMed research international · 2014Pooled it
- Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Trial
- Phenotypic Variability and Diagnostic Characteristics of Pediatric Osteogenesis Imperfecta: A 10-Year Multicenter Cohort Study from Three Tertiary Pediatric Hospitals in Bucharest, Romania.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Co-Occurrence of Osteogenesis Imperfecta Type III and Chronic Abruption-Oligohydramnios Sequence: A Case Report Suggesting a Possible Role of Type I Collagen Fragility.The journal of obstetrics and gynaecology research · 2026Article
- Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review.Orphanet journal of rare diseases · 2026Review
- Review
- [Research progress on pathological changes of glenohumeral capsule in patients with recurrent shoulder anterior dislocation].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2025Review
- Clinical Outcome of Patients with Osteogenesis Imperfecta on Intravenous Pamidronate Treatment at the Philippine General Hospital from 2010-2018.Acta medica Philippina · 2025Article
- Subarachnoid hemorrhage secondary to ruptured posterior inferior cerebellar artery aneurysm in a patient with type 3 osteogenesis imperfecta: A case report and topic review.Surgical neurology international · 2025Article
- Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.European journal of human genetics : EJHG · 2024Article
- Pregnancy complicated by severe osteogenesis imperfecta poses a challenge for the anaesthetist: A case report.The Journal of international medical research · 2024Article
- Dentinogenesis imperfecta in a 6-year-old male neutered Labrador retriever: Case report with atypical clinical presentation and treatment review.Frontiers in veterinary science · 2024Article
- Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.Biochimica et biophysica acta. Molecular basis of disease · 2023Article
- Article
- Landscape of Well-Coordinated Fracture Healing in a Mouse Model Using Molecular and Cellular Analysis.International journal of molecular sciences · 2023Article
- From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.Biomolecules · 2023Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to prenatal fractures. The first scientific description of OI dates from 1788. Since then, important milestones in OI research and treatment have, among others, been the classification of OI into 4 types (the 'Sillence classification'), the discovery of defects in collagen type I biosynthesis as a cause of most cases of OI and the use of bisphosphonate therapy. Furthermore, in the past 5 years, it has become clear that OI comprises a group of heterogeneous disorders, with an estimated 90% of cases due to a causative variant in the COL1A1 or COL1A2 genes and with the remaining 10% due to causative recessive variants in the 8 genes known so far, or in other currently unknown genes. This review aims to highlight the current knowledge around the history, epidemiology, pathogenesis, clinical/radiological features, management, and future prospects of OI. The text will be illustrated with clinical descriptions, including radiographs and, where possible, photographs of patients with OI.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.