Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

A Mussa, GB Ferrero, B Ceoloni, E Basso… - European journal of …, 2011 - Springer
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by neonatal
macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly …

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the …

A Mussa, S Di Candia, S Russo, S Catania… - European journal of …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is the most common (epi) genetic overgrowth-
cancer predisposition disorder. Given the absence of consensual recommendations or …

Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of …

R Weksberg, J Nishikawa, O Caluseriu… - Human molecular …, 2001 - academic.oup.com
Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with …

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

F Brioude, R Hennekam, J Bliek, C Coze… - European Journal of …, 2018 - nature.com
Recently Brzezinski et al. reported three individuals with Beckwith–Wiedemann syndrome
(BWS) due to a loss of methylation at imprinting center 2 (IC2 LOM), who had intra …

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith‐Wiedemann syndrome

A Mussa, KA Duffy, D Carli, GB Ferrero… - Pediatric blood & …, 2019 - Wiley Online Library
Abstract Patients with Beckwith‐Wiedemann spectrum (BWSp) undergo quarterly alpha‐
fetoprotein measurement for hepatoblastoma (HB) screening up to 4 years of age …

[HTML][HTML] Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

J Brzezinski, C Shuman, S Choufani, P Ray… - European Journal of …, 2017 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …

[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome

KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …

[PDF][PDF] Case Report Functional Adrenocortical Adenoma in a Child with Beckwith–Wiedemann Syndrome

LJ Doya, NT Hassan, HA Mansour, MAA Alkhalil… - 2021 - academia.edu
1. Background Beckwith–Wiedemann syndrome (BWS) is also termed EMG (exomphalos,
macroglossia, and gigantism) syndrome. Historically, the first clinical description was in …

11p15. 5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

EM Fiala, MV Ortiz, JA Kennedy, D Glodzik… - Cancer, 2020 - Wiley Online Library
Background Constitutional or somatic mosaic epimutations are increasingly recognized as a
mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith‐Wiedemann …

[引用][C] Neuroblastoma in a patient with the Beckwith–Wiedemann syndrome (BWS)

G Yoon, G Graham, R Weksberg… - … : The Official Journal …, 2002 - Wiley Online Library
Since 1993, our Institution has recommended that patients with the BeckwithąWiedemann
syndrome BWS) be screened for Wilms tumor with periodic abdominal ultrasonograms. We …