Beckwith-Wiedemann syndrome (Concept Id: C0004903) - MedGen (2024)

Etiology

Ocular manifestations of Beckwith-Wiedemann syndrome.

Rohowetz LJ,Kalavar M,Al-Khersan H,Kiryakoza L,Patel NA,Yannuzzi NA,Capo H,Berrocal AM
J AAPOS2021 Oct;25(5):303-305.e1.Epub 2021 Sep 25doi: 10.1016/j.jaapos.2021.04.012.PMID: 34582951

Tongue Reduction for Macroglossia.

McCrossan S,Martin S,Hill C
J Craniofac Surg2021 Jul-Aug 01;32(5):1856-1859.doi: 10.1097/SCS.0000000000007276.PMID: 33235175

Beckwith-Wiedemann syndrome in diverse populations.

Duffy KA,Sajorda BJ,Yu AC,Hathaway ER,Grand KL,Deardorff MA,Kalish JM
Am J Med Genet A2019 Apr;179(4):525-533.Epub 2019 Feb 4doi: 10.1002/ajmg.a.61053.PMID: 30719840Free PMC Article

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

Brioude F,Kalish JM,Mussa A,Foster AC,Bliek J,Ferrero GB,Boonen SE,Cole T,Baker R,Bertoletti M,Cocchi G,Coze C,De Pellegrin M,Hussain K,Ibrahim A,Kilby MD,Krajewska-Walasek M,Kratz CP,Ladusans EJ,Lapunzina P,Le Bouc Y,Maas SM,Macdonald F,Õunap K,Peruzzi L,Rossignol S,Russo S,Shipster C,Skórka A,Tatton-Brown K,Tenorio J,Tortora C,Grønskov K,Netchine I,Hennekam RC,Prawitt D,Tümer Z,Eggermann T,Mackay DJG,Riccio A,Maher ER
Nat Rev Endocrinol2018 Apr;14(4):229-249.Epub 2018 Jan 29doi: 10.1038/nrendo.2017.166.PMID: 29377879Free PMC Article

Wiedemann-Beckwith syndrome.

Engström W,Lindham S,Schofield P
Eur J Pediatr1988 Jun;147(5):450-7.doi: 10.1007/BF00441965.PMID: 3044795

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Diagnosis

Beckwith-Wiedemann syndrome.

Mishra D,Chakole V
Pan Afr Med J2023;45:17.Epub 2023 May 5doi: 10.11604/pamj.2023.45.17.38741.PMID: 37426460Free PMC Article

Syndromic forms of congenital hyperinsulinism.

Zenker M,Mohnike K,Palm K
Front Endocrinol (Lausanne)2023;14:1013874.Epub 2023 Mar 30doi: 10.3389/fendo.2023.1013874.PMID: 37065762Free PMC Article

Omphalocele-What should we tell the prospective parents?

Adams AD,Stover S,Rac MW
Prenat Diagn2021 Mar;41(4):486-496.Epub 2021 Feb 4doi: 10.1002/pd.5886.PMID: 33540475

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

Brioude F,Kalish JM,Mussa A,Foster AC,Bliek J,Ferrero GB,Boonen SE,Cole T,Baker R,Bertoletti M,Cocchi G,Coze C,De Pellegrin M,Hussain K,Ibrahim A,Kilby MD,Krajewska-Walasek M,Kratz CP,Ladusans EJ,Lapunzina P,Le Bouc Y,Maas SM,Macdonald F,Õunap K,Peruzzi L,Rossignol S,Russo S,Shipster C,Skórka A,Tatton-Brown K,Tenorio J,Tortora C,Grønskov K,Netchine I,Hennekam RC,Prawitt D,Tümer Z,Eggermann T,Mackay DJG,Riccio A,Maher ER
Nat Rev Endocrinol2018 Apr;14(4):229-249.Epub 2018 Jan 29doi: 10.1038/nrendo.2017.166.PMID: 29377879Free PMC Article

Beckwith-Wiedemann syndrome.

Choufani S,Shuman C,Weksberg R
Am J Med Genet C Semin Med Genet2010 Aug 15;154C(3):343-54.doi: 10.1002/ajmg.c.30267.PMID: 20803657

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Therapy

Overgrowth Syndrome.

Li Y,Donnelly CG,Rivera RM
Vet Clin North Am Food Anim Pract2019 Jul;35(2):265-276.doi: 10.1016/j.cvfa.2019.02.007.PMID: 31103180Free PMC Article

Hyperinsulinism in the Neonate.

Lord K,De León DD
Clin Perinatol2018 Mar;45(1):61-74.Epub 2017 Dec 6doi: 10.1016/j.clp.2017.10.007.PMID: 29406007

Fateful imprints.

Couzin-Frankel J
Science2017 Jan 13;355(6321):122-125.doi: 10.1126/science.355.6321.122.PMID: 28082544

The epidemiology of hepatoblastoma.

Spector LG,Birch J
Pediatr Blood Cancer2012 Nov;59(5):776-9.Epub 2012 Jun 12doi: 10.1002/pbc.24215.PMID: 22692949

Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.

Rump P,Zeegers MP,van Essen AJ
Am J Med Genet A2005 Jul 1;136(1):95-104.doi: 10.1002/ajmg.a.30729.PMID: 15887271

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Prognosis

Syndromic forms of congenital hyperinsulinism.

Zenker M,Mohnike K,Palm K
Front Endocrinol (Lausanne)2023;14:1013874.Epub 2023 Mar 30doi: 10.3389/fendo.2023.1013874.PMID: 37065762Free PMC Article

Omphalocele-What should we tell the prospective parents?

Adams AD,Stover S,Rac MW
Prenat Diagn2021 Mar;41(4):486-496.Epub 2021 Feb 4doi: 10.1002/pd.5886.PMID: 33540475

Tall stature in children and adolescents.

Urakami T
Minerva Pediatr2020 Dec;72(6):472-483.Epub 2020 Aug 4doi: 10.23736/S0026-4946.20.05971-X.PMID: 32748612

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

Brioude F,Kalish JM,Mussa A,Foster AC,Bliek J,Ferrero GB,Boonen SE,Cole T,Baker R,Bertoletti M,Cocchi G,Coze C,De Pellegrin M,Hussain K,Ibrahim A,Kilby MD,Krajewska-Walasek M,Kratz CP,Ladusans EJ,Lapunzina P,Le Bouc Y,Maas SM,Macdonald F,Õunap K,Peruzzi L,Rossignol S,Russo S,Shipster C,Skórka A,Tatton-Brown K,Tenorio J,Tortora C,Grønskov K,Netchine I,Hennekam RC,Prawitt D,Tümer Z,Eggermann T,Mackay DJG,Riccio A,Maher ER
Nat Rev Endocrinol2018 Apr;14(4):229-249.Epub 2018 Jan 29doi: 10.1038/nrendo.2017.166.PMID: 29377879Free PMC Article

Pancreatoblastoma.

Saif MW
JOP2007 Jan 9;8(1):55-63.PMID: 17228135

See all (222)

Clinical prediction guides

Syndromic forms of congenital hyperinsulinism.

Zenker M,Mohnike K,Palm K
Front Endocrinol (Lausanne)2023;14:1013874.Epub 2023 Mar 30doi: 10.3389/fendo.2023.1013874.PMID: 37065762Free PMC Article

Tall stature in children and adolescents.

Urakami T
Minerva Pediatr2020 Dec;72(6):472-483.Epub 2020 Aug 4doi: 10.23736/S0026-4946.20.05971-X.PMID: 32748612

Overgrowth Syndrome.

Li Y,Donnelly CG,Rivera RM
Vet Clin North Am Food Anim Pract2019 Jul;35(2):265-276.doi: 10.1016/j.cvfa.2019.02.007.PMID: 31103180Free PMC Article

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

Brioude F,Kalish JM,Mussa A,Foster AC,Bliek J,Ferrero GB,Boonen SE,Cole T,Baker R,Bertoletti M,Cocchi G,Coze C,De Pellegrin M,Hussain K,Ibrahim A,Kilby MD,Krajewska-Walasek M,Kratz CP,Ladusans EJ,Lapunzina P,Le Bouc Y,Maas SM,Macdonald F,Õunap K,Peruzzi L,Rossignol S,Russo S,Shipster C,Skórka A,Tatton-Brown K,Tenorio J,Tortora C,Grønskov K,Netchine I,Hennekam RC,Prawitt D,Tümer Z,Eggermann T,Mackay DJG,Riccio A,Maher ER
Nat Rev Endocrinol2018 Apr;14(4):229-249.Epub 2018 Jan 29doi: 10.1038/nrendo.2017.166.PMID: 29377879Free PMC Article

Beckwith-Wiedemann syndrome.

Weksberg R,Shuman C,Beckwith JB
Eur J Hum Genet2010 Jan;18(1):8-14.doi: 10.1038/ejhg.2009.106.PMID: 19550435Free PMC Article

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Beckwith-Wiedemann syndrome (Concept Id: C0004903)
 - MedGen (2024)
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