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

被引：0

作者：

Frédéric Brioude

Jennifer M. Kalish

Alessandro Mussa

Alison C. Foster

Jet Bliek

Giovanni Battista Ferrero

Susanne E. Boonen

Trevor Cole

Robert Baker

Monica Bertoletti

Guido Cocchi

Carole Coze

Maurizio De Pellegrin

Khalid Hussain

Abdulla Ibrahim

Mark D. Kilby

Malgorzata Krajewska-Walasek

Christian P. Kratz

Edmund J. Ladusans

Pablo Lapunzina

Yves Le Bouc

Saskia M. Maas

Fiona Macdonald

Katrin Õunap

Licia Peruzzi

Sylvie Rossignol

Silvia Russo

Caroleen Shipster

Agata Skórka

Katrina Tatton-Brown

Jair Tenorio

Chiara Tortora

Karen Grønskov

Irène Netchine

Raoul C. Hennekam

Dirk Prawitt

Zeynep Tümer

Thomas Eggermann

Deborah J. G. Mackay

Andrea Riccio

Eamonn R. Maher

机构：

[1] Sorbonne Université,Division of Human Genetics, Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine

[2] Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06,Department of Public Health and Pediatric Sciences

[3] INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA),Department of Gynaecology and Obstetrics

[4] APHP Hôpital Trousseau,Department of Clinical Genetics

[5] Explorations Fonctionnelles Endocriniennes,Department of Pediatrics

[6] University of Pennsylvania,Paediatric Department

[7] University of Torino,Department of Paediatric Medicine, Division of Endocrinology

[8] Neonatal Intensive Care Unit,Department of Plastic and Reconstructive Surgery

[9] Sant'Anna Hospital,Department of Medical Genetics

[10] Città della Salute e della Scienza di Torino,Department of Paediatric Cardiology

[11] Birmingham Health Partners,Department of Clinical Genetics, Tartu University Hospital and Department of Clinical Genetics

[12] West Midlands Regional Genetics Service,Department of Pediatrics

[13] Birmingham Women's and Children's National Health Service (NHS) Foundation Trust,Department of Clinical Genetics

[14] Institute of Cancer and Genomic Sciences,Department of Pediatrics

[15] College of Medical and Dental Sciences,Department of Environmental

[16] University of Birmingham,Department of Medical Genetics

[17] Academic Medical Center,undefined

[18] University of Amsterdam,undefined

[19] Clinical Genetic Unit,undefined

[20] Zealand University Hospital,undefined

[21] Beckwith–Wiedemann Support Group UK,undefined

[22] The Drum and Monkey,undefined

[23] Italian Association of Beckwith–Wiedemann syndrome (AIBWS),undefined

[24] Alma Mater Studiorum,undefined

[25] Bologna University,undefined

[26] Neonatology Unit,undefined

[27] Aix-Marseille Univ et Assistance Publique Hôpitaux de Marseille (APHM),undefined

[28] Hôpital d'Enfants de La Timone,undefined

[29] Service d'Hématologie–Oncologie Pédiatrique,undefined

[30] Pediatric Orthopaedic Unit IRCCS Ospedale San Raffaele,undefined

[31] Milan,undefined

[32] Sidra Medical and Research Center,undefined

[33] North Bristol National Health Service (NHS) Trust,undefined

[34] Southmead Hospital,undefined

[35] Institute of Metabolism and Systems Research,undefined

[36] College of Medical and Dental Sciences,undefined

[37] University of Birmingham,undefined

[38] Fetal Medicine Centre,undefined

[39] Birmingham Women's and Children's National Health Service (NHS) Foundation Trust,undefined

[40] The Children's Memorial Health Institute,undefined

[41] Pediatric Hematology and Oncology,undefined

[42] Hannover Medical School,undefined

[43] Royal Manchester Children's Hospital,undefined

[44] Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ,undefined

[45] CIBERER,undefined

[46] Centro de Investigación Biomédica en Red de Enfermedades Raras,undefined

[47] ISCIII,undefined

[48] West Midlands Regional Genetics Laboratory,undefined

[49] Birmingham Women's and Children's National Health Service (NHS) Foundation Trust,undefined

[50] United Laboratories,undefined

来源：

Nature Reviews Endocrinology | 2018年 / 14卷

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摘要：

Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indications, molecular diagnosis and management of the newly defined Beckwith–Wiedemann spectrum.

引用

页码：229 / 249

页数：20

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