ArticleClinical genetics2020
Current knowledge of medical complications in adults with achondroplasia: A scoping review.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed, 79 citations in OpenAlex.
- Assessing signs and impacts of achondroplasia: psychometric evaluation of the Achondroplasia Child Experience Measures.Journal of patient-reported outcomes · 2026Trial
- Pregnancy and related complications in achondroplasia: a scoping review.BMC pregnancy and childbirth · 2026Article
- Consensus statement on the management of Achondroplasia in the Middle East.Frontiers in endocrinology · 2026Article
- Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.Diagnostics (Basel, Switzerland) · 2025Article
- Mitral Valve Repair in a Patient With Achondroplasia.JACC. Case reports · 2025Article
- Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.Orphanet journal of rare diseases · 2025Article
- International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.Nature reviews. Endocrinology · 2025Review
- Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia.The Journal of clinical investigation · 2025Article
- [Achondroplasia : New era of orthopedic treatment?]Orthopadie (Heidelberg, Germany) · 2024Review
- Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature.Orthopaedic surgery · 2024Review
- Achondroplasia current concept of orthopaedic management.Journal of children's orthopaedics · 2024Review
- European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.Advances in therapy · 2024Article
- Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.Genetics in medicine open · 2024Article
- Intradural T12-L1 disc herniation in a patient with achondroplasia: A case report.Surgical neurology international · 2024Article
- Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database.Orphanet journal of rare diseases · 2023Article
- Real-world evidence in achondroplasia: considerations for a standardized data set.Orphanet journal of rare diseases · 2023Article
- Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.Orphanet journal of rare diseases · 2023Observational
- Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.Orphanet journal of rare diseases · 2023Article
- The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience.Frontiers in pediatrics · 2023Article
- Posterior Vertebral Column Resection (pVCR) for Severe Thoracolumbar Kyphosis in Patients With Achondroplasia.Global spine journal · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice.
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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.