ReviewJournal of bone and mineral metabolism2022
Disease-specific complications and multidisciplinary interventions in achondroplasia.
Review in Journal of bone and mineral metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Surgical Correction of Thoracolumbar Kyphosis in Achondroplasia: Complications, Pitfalls, and Reflections on the Pursuit of Maximal Realignment in View of Correction Leading to Functional Disability.Journal of clinical medicine · 2026Article
- The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals.Hormone research in paediatrics · 2026Article
- Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation ofMolecular syndromology · 2025Article
- Real-World Safety and Effectiveness of Vosoritide in Achondroplasia: Results from a Single Center in Portugal.Advances in therapy · 2025Article
- Meclozine and growth hormone ameliorate bone length and quality in experimental models of achondroplasia.Journal of bone and mineral metabolism · 2025Article
- Achondroplasia current concept of orthopaedic management.Journal of children's orthopaedics · 2024Review
- Vosoritide therapy in children with achondroplasia under 5 years of age.Translational pediatrics · 2024Article
- Identification biomarkers in disease progression of obstructive sleep apnea from children serum based on WGCNA and Mfuzz.Frontiers in neurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In addition to short stature, patients with ACH have a high prevalence of medical complications, including upper airway obstructive apnea, increased mortality, foramen magnum stenosis, hydrocephalus, developmental delay, recurrent ear infections, genu varum, obesity, and spinal canal stenosis, throughout their whole life. Several investigational drugs that modulate abnormal FGFR3 signaling have recently emerged, vosoritide being the most developed. This review presents the different disease-specific complications of ACH occurring in neonates, infants, childhood, adolescent, and adults and reports the current multidisciplinary interventions for these various complications. Moreover, we propose treatment strategies for children with ACH from the perspective of quality of life in adulthood.
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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.