Evidence map›Paper›PMID 31196103›Full record

ReviewOrphanet journal of rare diseases2019

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.

Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil and 11 more

Erratum issued Registry-linked trialAbstract readReviewConsensus Statement
PubMed Full text at PMC Publisher
In one paragraph

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. An erratum has been issued. It is linked to trial NCT07569731 (Fibrous Dysplasia), which is not on this map. Cited by 163 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
163citing papers in PubMed, 5 pooled it
–field-weighted citation impact
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.

NCT07569731 recruitingnot on this mapstarted 2022, after this paper: background citation

Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data

TypeobservationalSponsorIstituto Ortopedico RizzoliRan2022 to 2026Enrolled200ConditionsFibrous Dysplasia, Fibrous Dysplasia of Bone, Fibrous Dysplasia/McCune-Albright Syndrome, Mazabraud Syndrome
3 · Its place in the literature

Who cites it

163 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Pooled it
  2. Comparison of traditional and new treatments for fibrous dysplasia: a systematic review and meta-analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Trial
  7. Trial
  8. Increased uptake ofEuropean journal of nuclear medicine and molecular imaging · 2022
    Trial
  9. Article
  10. Article
  11. Article
  12. Article
  13. Fibrous dysplasia: clinical and pathologic characteristics, surgical approaches, and outcomes in a large Italian cohort.Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology · 2026
    Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Muhammad Kassim JavaidNuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK. kassim.javaid@ndorms.ox.ac.uk.ORCID http://orcid.org/0000-0001-7985-0048
Alison BoyceSkeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA.
Natasha Appelman-DijkstraDepartment of Medicine, Division of Endocrinology & Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Juling OngDepartment of Plastic Surgery, Craniofacial Centre, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Patrizia DefabianisSection of Paediatric Dentistry, University of Turin, Turin, Italy.
Amaka OffiahDepartment of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
Paul ArundelMetabolic Bone Team, Sheffield Children's Hospital, Sheffield, UK.
Nick ShawEndocrine Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Valter Dal PosEuropean Association of Friends of McCune-Albright Syndrome (TO), Turino, Italy.
Ann UnderhilFibrous Dysplasia Support Society, Birmingham, UK.
Deanna PorteroFibrous Dysplasia Foundation, Grandville, USA.
Lisa HeralFibrous Dysplasia Foundation, Grandville, USA.
Anne-Marie HeegaardDepartment of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Laura MasiDepartment of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Fergal MonsellPaediatric Orthopaedic and Trauma Surgery, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Robert StantonDepartment of Orthopaedic Surgery, Nemours Children's Hospital, Orlando, Florida, USA.
Pieter Durk Sander DijkstraDepartment of Orthopaedic Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Maria Luisa BrandiDepartment of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Roland ChapurlatINSERM UMR 1033 and Université de Lyon, Lyon, France.
Neveen Agnes Therese HamdyDepartment of Medicine, Division of Endocrinology & Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Michael Terrence CollinsSkeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA.

Funding

Skeletal Disorders and Mineral Homeostasis SectionZIADE000649 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI COLLINS, MICHAEL · 2009 to 2025
$32.8M
6 · The paper itself

Abstract

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients' advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally.

Indexed as

Fibrous Dysplasia of BoneFibrous Dysplasia, PolyostoticHumansDiagnosisFibrous dysplasiaGuidelinesManagementMcCune Albright syndrome

Identifiers

PMID31196103
PMCPMC6567644

What OpenQuestion holds

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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.