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Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.

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

Author information

1
Sorbonne 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.
2
Division 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.
3
Department of Public Health and Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.
4
Neonatal Intensive Care Unit, Department of Gynaecology and Obstetrics, Sant'Anna Hospital, Città della Salute e della Scienza di Torino, Corso Spezia 60, 10126 Torino, Italy.
5
Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham B15 2TG, UK.
6
Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
7
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, PO Box 7057 1007 MB Amsterdam, The Netherlands.
8
Clinical Genetic Unit, Department of Pediatrics, Zealand University Hospital, Sygehusvej 10 4000 Roskilde, Denmark.
9
Beckwith-Wiedemann Support Group UK, The Drum and Monkey, Wonston, Hazelbury Bryan, Sturminster Newton, Dorset DT10 2EE, UK.
10
Italian Association of Beckwith-Wiedemann syndrome (AIBWS) Piazza Turati, 3, 21029, Vergiate (VA), Italy.
11
Alma Mater Studiorum, Bologna University, Paediatric Department, Neonatology Unit, Via Massarenti 11, 40138 Bologna BO, Italy.
12
Aix-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.
13
Pediatric Orthopaedic Unit IRCCS Ospedale San Raffaele, Milan, Via Olgettina Milano, 60, 20132 Milano MI, Italy.
14
Department of Paediatric Medicine, Division of Endocrinology, Sidra Medical and Research Center, Al Gharrafa Street, Ar-Rayyan, Doha, Qatar.
15
Department of Plastic and Reconstructive Surgery, North Bristol National Health Service (NHS) Trust, Southmead Hospital, Bristol BS10 5NB, UK.
16
Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
17
Fetal Medicine Centre, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Edgbaston, Birmingham, B15 2TG, UK.
18
Department of Medical Genetics, The Children's Memorial Health Institute, 20, 04-730, Warsaw, Poland.
19
Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Strasse 1 30625, Hannover, Germany.
20
Department of Paediatric Cardiology, Royal Manchester Children's Hospital, Manchester, M13 8WL UK.
21
Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain.
22
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, Spain.
23
West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, B15 2TG UK.
24
Department 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.
25
European Society for Paediatric Nephrology (ESPN), Inherited Kidney Disorders Working Group.
26
AOU Città della Salute e della Scienza di Torino, Regina Margherita Children's Hospital, Turin, Italy.
27
Service 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.
28
Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Via Zucchi 18, 20095 Cusano, Milan, Italy.
29
Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, WC1N 3JH, UK.
30
Department of Pediatrics, The Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warszawa, Poland.
31
South West Thames Regional Genetics Service and St George's University of London and Institute of Cancer Research, London, SW17 0RE, UK.
32
Regional Center for CLP, Smile House, San Paolo University Hospital, Via Antonio di Rudinì, 8, 20142, Milan, Italy.
33
Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
34
Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam-Zuidoost, Amsterdam, The Netherlands.
35
Center for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Langenbeckstr. 1, D-55101, Mainz, Germany.
36
Institute of Human Genetics, University Hospital, Technical University of Aachen, Templergraben 55, 52062, Aachen, Germany.
37
Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
38
Department 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.
39
Department 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.

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.

PMID:
29377879
PMCID:
PMC6022848
DOI:
10.1038/nrendo.2017.166
[Indexed for MEDLINE]
Free PMC Article

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