Evidence map›Paper›PMID 34837063›Full record

ReviewNature reviews. Endocrinology2022

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Inês Alves, Wagner A R Baratela, James Betts, Michael B Bober, Silvio Boero, Jenna Briddell and 45 more

Open access · greenAbstract readReviewConsensus Statement
PubMed Publisher
In one paragraph

Review in Nature reviews. Endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
91citing papers in PubMed, 3 pooled it
21.1field-weighted citation impact, top 1% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

91 citing papers in PubMed, 3 syntheses or guidelines pooled it, 177 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Pooled it
  4. Article
  5. 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 · 2026
    Article
  6. Review
  7. Review
  8. Review
  9. Article
  10. Article
  11. Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026
    Article
  12. C-Type Natriuretic Peptide Derivatives: Orthopaedic Implications in Achondroplasia.Journal of the Pediatric Orthopaedic Society of North America · 2026
    Review
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

31 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

55 authors at 20 institutions in 14 countries.

Ravi SavarirayanMurdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia. ravi.savarirayan@vcgs.org.au.ORCID http://orcid.org/0000-0002-5105-8427
Penny IrelandSchool of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, Australia.
Melita IrvingEvelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
Dominic ThompsonGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Inês AlvesANDO Portugal / ERN BOND, Évora, Portugal.ORCID http://orcid.org/0000-0001-8963-4736
Wagner A R BaratelaHospital Sirio-Libanes, Sao Paulo, Brazil.
James BettsCentre for Nutrition, Exercise & Metabolism, Department for Health, University of Bath, Bath, UK.
Michael B BoberNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Silvio BoeroIRCCS Giannina Gaslini Genova, Genova, Italy.
Jenna BriddellNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.ORCID http://orcid.org/0000-0001-9104-2190
Jeffrey CampbellNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Philippe M CampeauCHU Sainte-Justine Research Center, Montreal, Canada.ORCID http://orcid.org/0000-0001-9713-7107
Patricia Carl-InnigBKMF, Bremen, Germany.
Moira S CheungEvelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.ORCID http://orcid.org/0000-0003-0742-7595
Martyn CobourneCentre for Craniofacial and Regenerative Biology, King's College London, London, UK.
Valérie Cormier-DaireHôpital Necker-Enfants Malades, Paris, France.
Muriel Deladure-MollaHôpital Necker-Enfants Malades, Paris, France.
Mariana Del PinoPaediatric Hospital Garrahan, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0001-6095-7080
Heather ElphickSheffield Children's Hospital, Sheffield, UK.
Virginia FanoPaediatric Hospital Garrahan, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0003-3311-2220
Brigitte FaurouxHôpital Necker-Enfants Malades, Paris, France.
Jonathan GibbinsEvelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
Mari L GrovesJohns Hopkins University School of Medicine, Baltimore, MD, USA.
Lars HagenäsKarolinska Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-5605-2462
Therese HannonNewcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Julie Hoover-FongJohns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-1242-5626
Morrys KaisermannGrowing Stronger, Saratoga, CA, USA.ORCID http://orcid.org/0000-0002-6495-022X
Antonio Leiva-GeaUniversity Hospital Virgen de la Victoria, Málaga, Spain.ORCID http://orcid.org/0000-0002-9286-2796
Juan LlerenaNational Institute Fernandes Figueira, Rio de Janeiro, Brazil.
William MackenzieNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.ORCID http://orcid.org/0000-0002-6847-1197
Kenneth MartinUCSF Benioff Children's Hospital, Oakland, CA, USA.
Fabio MazzoleniASST Monza, Monza, Italy.
Sharon McDonnellNewcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Maria Costanza MeazziniSan Paolo Hospital, Milan, Italy.ORCID http://orcid.org/0000-0001-9596-570X
Josef MileradKarolinska Hospital, Stockholm, Sweden.
Klaus MohnikeUniversitätskinderklinik, Otto-von-Guericke Universität, Magdeburg, Germany.
Geert R MortierAntwerp University Hospital and University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0001-9871-4578
Amaka OffiahSheffield Children's Hospital, Sheffield, UK.ORCID http://orcid.org/0000-0001-8991-5036
Keiichi OzonoGraduate School of Medicine, Osaka University, Osaka, Japan.ORCID http://orcid.org/0000-0002-6517-8825
John A PhillipsVanderbilt University Medical Center, Nashville, TN, USA.
Steven PowellNewcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0001-7181-4608
Yosha PrasadEvelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
Cathleen RaggioHospital for Special Surgery, New York, NY, USA.
Pablo RosselliFundación Cardio infantil Facultad de Medicina, Bogota, Colombia.
Judith RossiterUniversity of Maryland St. Joseph Medical Center, Towson, MD, USA.
Angelo SelicorniASST Lariana, Como, Italy.
Marco SessaAISAC, Milan, Italy.
Mary TherouxNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Matthew ThomasNewcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Laura TrespediIRCCS Policlinico Milan, Milan, Italy.
David TunkelJohns Hopkins University School of Medicine, Baltimore, MD, USA.
Colin WallisGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Michael WrightNewcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Natsuo YasuiTokushima University Hospital, Tokushima, Japan.
Svein Otto FredwallTRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Alfred I. duPont Hospital for Children · USNewcastle upon Tyne Hospitals NHS Foundation Trust · GBGuy's and St Thomas' NHS Foundation Trust · GBHôpital Necker-Enfants Malades · FRJohns Hopkins University · USGarrahan Hospital · ARGreat Ormond Street Hospital for Children NHS Foundation Trust · GBKarolinska University Hospital · SESheffield Children's Hospital · GBASST Melegnano e della Martesana · ITAzienda Socio Sanitaria Territoriale Lariana · ITCentre Hospitalier Universitaire Sainte-Justine · CAHospital Clínico Universitario Virgen de la Victoria · ESHospital for Special Surgery · USHospital Sírio-Libanês · BRIRCCS Policlinico San Donato · ITIstituto Giannina Gaslini · ITKing's College London · GBOspedale San Paolo · ITRoyal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.

Indexed as

AchondroplasiaQuality of LifeHumansMutationOsteogenesisReceptor, Fibroblast Growth Factor, Type 3Receptor, Fibroblast Growth Factor, Type 3

Identifiers

PMID34837063
OpenAlexW3216831752

What OpenQuestion holds

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Registered trials

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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.