Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Brioude, Frédéric; M. Kalish, Jennifer; Mussa, Alessandro; Foster, Alison; Bliek, Jet; Battista Ferrero, Giovanni; E. Boonen, Susanne; Cole, Trevor; J. Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; D. Kilby, Mark; Krajewska‐Walasek, Małgorzata; P. Kratz, Christian; J Ladusans, E; Lapunzina, Pablo; Le Bouc, Yves; M. Maas, Saskia; MacDonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton‐Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; C. M. Hennekam, Raoul; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah; Riccio, Andrea; R. Maher, Eamonn

doi:10.1038/nrendo.2017.166

Public

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Published in Nature Reviews Endocrinology • Jan 29, 2018

Authors:

Frédéric Brioude

Jennifer M. Kalish

Alessandro Mussa

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...

Subject

Medicine

Beckwith–Wiedemann syndrome

Statement (logic)

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