ReviewOrphanet journal of rare diseases2019
Achondroplasia: a comprehensive clinical review.
Review in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 204 papers, 8 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
204 citing papers in PubMed, 8 syntheses or guidelines pooled it, 484 citations in OpenAlex.
- Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines.Orthodontics & craniofacial research · 2026Pooled it
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- Efficacy and safety of vosoritide in children with achondroplasia: a systematic review and meta-analysis.European journal of pediatrics · 2026Pooled it
- Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.Pediatric research · 2024Pooled it
- Burden and Treatment of Achondroplasia: A Systematic Literature Review.Advances in therapy · 2023Pooled it
- Molecular and Genetic Mechanisms of Spinal Stenosis Formation: Systematic Review.International journal of molecular sciences · 2022Pooled it
- Osteomyelitis variolosa, an issue inherited from the past: case report and systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.American journal of medical genetics. Part A · 2020Pooled it
- Assessing signs and impacts of achondroplasia: psychometric evaluation of the Achondroplasia Child Experience Measures.Journal of patient-reported outcomes · 2026Trial
- Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial.JAMA pediatrics · 2026Trial
- Efficacy and Safety of Oral Meclizine for Growth Promotion in Children with Achondroplasia: A Phase 2 Clinical Trial.Calcified tissue international · 2025Trial
- Phase 1 safety, tolerability, pharmacokinetics and pharmacodynamics results of a long-acting C-type natriuretic peptide prodrug, TransCon CNP.British journal of clinical pharmacology · 2022Trial
- Real-World Outcomes of Vosoritide Treatment in Chinese Children with Achondroplasia: The Retrospective Cohort COREV Study.Advances in therapy · 2026Observational
- The QOLA study: psychometric validation of the Quality of Life of Parents of Children with Achondroplasia (QOLA) questionnaire - a multinational study in Germany, Italy, and Portugal.Journal of patient-reported outcomes · 2026Observational
- Clinical outcomes and bony restenosis after foramen magnum decompression for achondroplasia patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Predicting Craniospinal Surgery in Pediatric Achondroplasia: Benchmarking Statistical Inference and Explainable AI Under Rare-Disease Constraints.Annals of biomedical engineering · 2026Article
- From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments.Children (Basel, Switzerland) · 2026Review
- Pregnancy and related complications in achondroplasia: a scoping review.BMC pregnancy and childbirth · 2026Article
- Patient perspectives on humeral lengthening in achondroplasia: association between treatment timing and acceptance.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2026Article
- Development and pilot testing of the quality of life of parents of children with achondroplasia questionnaire.Journal of patient-reported outcomes · 2026Article
144 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
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.
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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.