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

关键词：

D O I：

暂无

中图分类号：

学科分类号：

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

共 50 条

[31] Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Antonie D. Kline
Joanna F. Moss
Angelo Selicorni
Anne-Marie Bisgaard
Matthew A. Deardorff
Peter M. Gillett
Stacey L. Ishman
Lynne M. Kerr
Alex V. Levin
Paul A. Mulder
Feliciano J. Ramos
Jolanta Wierzba
Paola Francesca Ajmone
David Axtell
Natalie Blagowidow
Anna Cereda
Antonella Costantino
Valerie Cormier-Daire
David FitzPatrick
Marco Grados
Laura Groves
Whitney Guthrie
Sylvia Huisman
Frank J. Kaiser
Gerritjan Koekkoek
Mary Levis
Milena Mariani
Joseph P. McCleery
Leonie A. Menke
Amy Metrena
Julia O’Connor
Chris Oliver
Juan Pie
Sigrid Piening
Carol J. Potter
Ana L. Quaglio
Egbert Redeker
David Richman
Claudia Rigamonti
Angell Shi
Zeynep Tümer
Ingrid D. C. Van Balkom
Raoul C. Hennekam
Nature Reviews Genetics, 2018, 19 : 649 - 666
[32] Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Lacombe, Didier
Bloch-Zupan, Agnes
Bredrup, Cecilie
Cooper, Edward B.
Houge, Sofia Douzgou
Garcia-Minaur, Sixto
Kayserili, Hulya
Larizza, Lidia
Gonzalez, Vanesa Lopez
Menke, Leonie A.
Milani, Donatella
Saettini, Francesco
Stevens, Cathy A.
Tooke, Lloyd
van der Zee, Jill A.
Van Genderen, Maria M.
Van-Gils, Julien
Waite, Jane
Adrien, Jean-Louis
Bartsch, Oliver
Bitoun, Pierre
Bouts, Antonia H. M.
Cueto-Gonzalez, Anna M.
Dominguez-Garrido, Elena
Duijkers, Floor A.
Fergelot, Patricia
Halstead, Elisabeth
Huisman, Sylvia A.
Meossi, Camilla
Mullins, Jo
Nikkel, Sarah M.
Oliver, Chris
Prada, Elisabetta
Rei, Alessandra
Riddle, Ilka
Rodriguez-Fonseca, Cristina
Pena, Rebecca Rodriguez
Russell, Janet
Saba, Alicia
Santos-Simarro, Fernando
Simpson, Brittany N.
Smith, David F.
Stevens, Markus F.
Szakszon, Katalin
Taupiac, Emmanuelle
Totaro, Nadia
Palafoll, Irene Valenzuena
van der Kaay, Danielle C. M.
Van Wijk, Michiel P.
Vyshka, Klea
JOURNAL OF MEDICAL GENETICS, 2024, 61 (06) : 503 - 519
[33] Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Kline, Antonie D.
Moss, Joanna F.
Selicorni, Angelo
Bisgaard, Anne-Marie
Deardorff, Matthew A.
Gillett, Peter M.
Ishman, Stacey L.
Kerr, Lynne M.
Levin, Alex V.
Mulder, Paul A.
Ramos, Feliciano J.
Wierzba, Jolanta
Ajmone, Paola Francesca
Axtell, David
Blagowidow, Natalie
Cereda, Anna
Costantino, Antonella
Cormier-Daire, Valerie
FitzPatrick, David
Grados, Marco
Groves, Laura
Guthrie, Whitney
Huisman, Sylvia
Kaiser, Frank J.
Koekkoek, Gerritjan
Levis, Mary
Mariani, Milena
McCleery, Joseph P.
Menke, Leonie A.
Metrena, Amy
O'Connor, Julia
Oliver, Chris
Pie, Juan
Piening, Sigrid
Potter, Carol J.
Quaglio, Ana L.
Redeker, Egbert
Richman, David
Rigamonti, Claudia
Shi, Angell
Tumer, Zeynep
Van Balkom, Ingrid D. C.
Hennekam, Raoul C.
NATURE REVIEWS GENETICS, 2018, 19 (10) : 649 - 666
[34] PRENATAL-DIAGNOSIS OF THE BECKWITH-WIEDEMANN SYNDROME
WINTER, SC
CURRY, CJR
SMITH, JC
KASSEL, S
MILLER, L
ANDREA, J
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (01): : 137 - 141
[35] PRENATAL-DIAGNOSIS OF BECKWITH-WIEDEMANN SYNDROME
WINTER, S
CURRY, CR
SMITH, C
KASSEL, S
CLINICAL RESEARCH, 1984, 32 (01): : A115 - A115
[36] INUTERO DIAGNOSIS OF BECKWITH-WIEDEMANN SYNDROME BY ULTRASOUND
WEINSTEIN, L
ANDERSON, C
RADIOLOGY, 1980, 134 (02) : 474 - 474
[37] PRENATAL ULTRASOUND DIAGNOSIS OF BECKWITH-WIEDEMANN SYNDROME
HEWITT, B
BANKIER, A
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY, 1994, 34 (04): : 488 - 490
[38] Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome
Van den Veyver, Ignatia B.
PRENATAL DIAGNOSIS, 2021, 41 (07) : 795 - 797
[39] Ultrasonographic prenatal diagnosis: Beckwith-Wiedemann syndrome
Gonzalez Rodriguez, L.
Rodriguez Fernandez, V.
Marin Ortiz, E.
Cervino Gomez, E.
Ramon y Cajal, C. N.
CLINICA E INVESTIGACION EN GINECOLOGIA Y OBSTETRICIA, 2016, 43 (04): : 190 - 192
[40] WIEDEMANN-BECKWITH SYNDROME - ANTENATAL DIAGNOSIS BY ULTRASONOGRAPHY
FLORI, J
BAULU, MA
NISAND, I
DELLENBACH, P
NOUVELLE PRESSE MEDICALE, 1981, 10 (41): : 3410 - 3410

← 1 2 3 4 5 →