ReviewEuropean journal of endocrinology2020
Osteogenesis imperfecta: an update on clinical features and therapies.
Review in European journal of endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
151 citing papers in PubMed, 4 syntheses or guidelines pooled it, 241 citations in OpenAlex.
- Does osteogenesis imperfecta predispose infants to metaphyseal fractures? A systematic review.BMJ paediatrics open · 2026Pooled it
- Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Pooled it
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Dental Implants in People with Osteogenesis Imperfecta: A Systematic Review.International journal of environmental research and public health · 2022Pooled it
- Safety and Efficacy of Denosumab in Children With Osteogenesis Imperfecta-the First Prospective Comparative Study.The Journal of clinical endocrinology and metabolism · 2024Trial
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 2026Review
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- Analysis of Genetic Factors in a Family With Short Stature.Molecular genetics & genomic medicine · 2026Article
- Article
- The Effect of Bisphosphonate Therapy on Hearing and Middle Ear Dysfunction in Pediatric Osteogenesis Imperfecta.Journal of the American Academy of Audiology · 2026Article
- Health-Related Quality of Life and Fatigue in Patients with Osteogenesis Imperfecta.Healthcare (Basel, Switzerland) · 2026Article
- Genotype-phenotype correlation-driven precision management in hereditary conductive and mixed hearing loss.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Fifteen-minute consultation: Modern diagnostic approach to the child with recurrent fractures.Archives of disease in childhood. Education and practice edition · 2026Article
- Functional validation using a zebrafish model reclassifies the rare COL1A2 p.Gly418Ala variant as a cause of Osteogenesis Imperfecta.Scientific reports · 2026Article
- Surgical Treatment of Tibial Tubercle Fractures in Osteogenesis Imperfecta: A Restrospective Case Series.Journal of the Pediatric Orthopaedic Society of North America · 2026Article
- Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta.JBMR plus · 2026Article
- Article
- OMICS Profiling Identifies Signatures of Senescence in Osteogenesis Imperfecta Osteoblasts Counteracted by 4-PBA.Journal of cellular and molecular medicine · 2026Article
- Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets-Like Rib Fractures: A Case Report.Clinical case reports · 2026Article
- Development of a large porcine model of osteogenesis imperfecta type I.Bone reports · 2026Article
91 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
3 authors at 2 institutions in 1 country.
Funding
Abstract
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within the collagen biosynthesis pathway or are involved in osteoblast differentiation and bone mineralization. Clinically, OI is heterogeneous in features and variable in severity. In addition to the skeletal findings, it can affect multiple systems including dental and craniofacial abnormalities, muscle weakness, hearing loss, respiratory and cardiovascular complications. A multi-disciplinary approach to care is recommended to address not only the fractures, reduced mobility, growth and bone pain but also other extra-skeletal manifestations. While bisphosphonates remain the mainstay of treatment in OI, new strategies are being explored, such as sclerostin inhibitory antibodies and TGF beta inhibition, to address not only the low bone mineral density but also the inherent bone fragility. Studies in animal models have expanded the understanding of pathomechanisms of OI and, along with ongoing clinical trials, will allow to develop better therapeutic approaches for these patients.
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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.