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

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.

SUBMITTER: Brioude F

PROVIDER: S-EPMC6022848 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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

Brioude Frédéric F Kalish Jennifer M JM Mussa Alessandro A Foster Alison C AC Bliek Jet J Ferrero Giovanni Battista GB Boonen Susanne E SE Cole Trevor T Baker Robert R Bertoletti Monica M Cocchi Guido G Coze Carole C De Pellegrin Maurizio M Hussain Khalid K Ibrahim Abdulla A Kilby Mark D MD Krajewska-Walasek Malgorzata M Kratz Christian P CP Ladusans Edmund J EJ Lapunzina Pablo P Le Bouc Yves Y Maas Saskia M SM Macdonald Fiona F Õunap Katrin K Peruzzi Licia L Rossignol Sylvie S Rossignol Sylvie S Russo Silvia S Shipster Caroleen C Skórka Agata A Tatton-Brown Katrina K Tenorio Jair J Tortora Chiara C Grønskov Karen K Netchine Irène I Hennekam Raoul C RC Prawitt Dirk D Tümer Zeynep Z Eggermann Thomas T Mackay Deborah J G DJG Riccio Andrea A Maher Eamonn R ER

Nature reviews. Endocrinology 20180129 4

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 c ...[more]

PMID: 29377879

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Dataset Information

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

Publications

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

Similar Datasets

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