Evidence map›Paper›PMID 29377879›Full record

ReviewNature reviews. Endocrinology2018

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Frédéric Brioude, Jennifer M Kalish, Alessandro Mussa, Alison C Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E Boonen, Trevor Cole, Robert Baker, Monica Bertoletti and 31 more

Open access · hybridAbstract readReviewConsensus Statement
In one paragraph

Review in Nature reviews. Endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 305 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
305citing papers in PubMed, 4 pooled it
47.6field-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

305 citing papers in PubMed, 4 syntheses or guidelines pooled it, 586 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. New insights into the (epi)genetics of twinning.Human reproduction (Oxford, England) · 2024
    Pooled it
  4. Guideline
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  8. Review
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  10. Review
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  13. Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026
    Review
  14. Ultra-low oxygen tension duringbioRxiv : the preprint server for biology · 2026
    Article
  15. Article
  16. Article
  17. Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026
    Article
  18. Article
  19. Article
  20. Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.The Journal of clinical endocrinology and metabolism · 2026
    Article

245 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

41 authors at 20 institutions in 12 countries.

Frédéric BrioudeSorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
Jennifer M KalishDivision of Human Genetics, Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Alessandro MussaDepartment of Public Health and Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.
Alison C FosterBirmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham B15 2TG, UK.
Jet BliekDepartment of Clinical Genetics, Academic Medical Center, University of Amsterdam, PO Box 7057 1007 MB Amsterdam, The Netherlands.
Giovanni Battista FerreroDepartment of Public Health and Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.
Susanne E BoonenClinical Genetic Unit, Department of Pediatrics, Zealand University Hospital, Sygehusvej 10 4000 Roskilde, Denmark.
Trevor ColeBirmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham B15 2TG, UK.
Robert BakerBeckwith-Wiedemann Support Group UK, The Drum and Monkey, Wonston, Hazelbury Bryan, Sturminster Newton, Dorset DT10 2EE, UK.
Monica BertolettiItalian Association of Beckwith-Wiedemann syndrome (AIBWS) Piazza Turati, 3, 21029, Vergiate (VA), Italy.
Guido CocchiAlma Mater Studiorum, Bologna University, Paediatric Department, Neonatology Unit, Via Massarenti 11, 40138 Bologna BO, Italy.
Carole CozeAix-Marseille Univ et Assistance Publique Hôpitaux de Marseille (APHM), Hôpital d'Enfants de La Timone, Service d'Hématologie-Oncologie Pédiatrique, 264 Rue Saint Pierre, 13385 Marseille, France.
Maurizio De PellegrinPediatric Orthopaedic Unit IRCCS Ospedale San Raffaele, Milan, Via Olgettina Milano, 60, 20132 Milano MI, Italy.
Khalid HussainDepartment of Paediatric Medicine, Division of Endocrinology, Sidra Medical and Research Center, Al Gharrafa Street, Ar-Rayyan, Doha, Qatar.
Abdulla IbrahimDepartment of Plastic and Reconstructive Surgery, North Bristol National Health Service (NHS) Trust, Southmead Hospital, Bristol BS10 5NB, UK.
Mark D KilbyInstitute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Malgorzata Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, 20, 04-730, Warsaw, Poland.
Christian P KratzPediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Strasse 1 30625, Hannover, Germany.
Edmund J LadusansDepartment of Paediatric Cardiology, Royal Manchester Children's Hospital, Manchester, M13 8WL UK.
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain.
Yves Le BoucSorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
Saskia M MaasDepartment of Clinical Genetics, Academic Medical Center, University of Amsterdam, PO Box 7057 1007 MB Amsterdam, The Netherlands.
Fiona MacdonaldWest Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, B15 2TG UK.
Katrin ÕunapDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital and Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, L. Puusepa 2, 51014, Tartu, Estonia.
Licia PeruzziEuropean Society for Paediatric Nephrology (ESPN), Inherited Kidney Disorders Working Group.
Sylvie RossignolService de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Laboratoire de Génétique Médicale, INSERM U1112 Avenue Molière 67098 STRASBOURG Cedex, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 4 Rue Kirschleger, 67000 Strasbourg, France.
Silvia RussoMedical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Via Zucchi 18, 20095 Cusano, Milan, Italy.
Caroleen ShipsterGreat Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, WC1N 3JH, UK.
Agata SkórkaDepartment of Medical Genetics, The Children's Memorial Health Institute, 20, 04-730, Warsaw, Poland.
Katrina Tatton-BrownSouth West Thames Regional Genetics Service and St George's University of London and Institute of Cancer Research, London, SW17 0RE, UK.
Jair TenorioInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain.
Chiara TortoraRegional Center for CLP, Smile House, San Paolo University Hospital, Via Antonio di Rudinì, 8, 20142, Milan, Italy.
Karen GrønskovKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Irène NetchineSorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
Raoul C HennekamDepartment of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam-Zuidoost, Amsterdam, The Netherlands.
Dirk PrawittCenter for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Langenbeckstr. 1, D-55101, Mainz, Germany.
Zeynep TümerKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Thomas EggermannInstitute of Human Genetics, University Hospital, Technical University of Aachen, Templergraben 55, 52062, Aachen, Germany.
Deborah J G MackayHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
Andrea RiccioDepartment of Environmental, Biological, and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania Luigi Vanvitelli, Caserta and Institute of Genetics and Biophysics "A. Buzzati-Traverso" - CNR, Via Pietro Castellino, 111,80131, Naples, Italy.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
National Health Service · GBCentre de Recherche Saint-Antoine · FRAcademic Medical Center · NLAssistance Publique Hôpitaux de Marseille · FRAssistance Publique – Hôpitaux de Paris · FRBirmingham Women’s and Children’s NHS Foundation Trust · GBCentro de Investigación Biomédica en Red · ESChildren's Hospital of Philadelphia · USChildren's Memorial Health Institute · PLEmma Kinderziekenhuis · NLEuropean Society for Paediatric Oncology · BEHôpitaux Universitaires de Strasbourg · FRInstituto de Salud Carlos III · ESIRCCS Istituto Auxologico Italiano · ITIRCCS Ospedale San Raffaele · ITKennedy Center · DKMedical University of Warsaw · PLMedizinische Hochschule Hannover · DENational Institute for Health Research · GBRigshospitalet · DK

Funding

The Mechanism of Tumor Formation in Beckwith-Wiedemann SyndromeK08CA193915 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI KALISH, JENNIFER MELISSA · 2015 to 2019
$703k
Medical Research Council MR/J000329/1NCI NIH HHS K08 CA193915Wellcome Trust
6 · The paper itself

Abstract

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.

Indexed as

ConsensusBeckwith-Wiedemann SyndromeDNA Copy Number VariationsDNA MethylationHumansMolecular Diagnostic TechniquesNeoplasms, Germ Cell and EmbryonalPolymorphism, Single NucleotidePrenatal DiagnosisReproductive Techniques, Assisted

Identifiers

PMID29377879
PMCPMC6022848
OpenAlexW2786780539

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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.