Recognition and management of the infant with Beckwith–Wiedemann syndrome

PS Spivey, WT Bradshaw - Advances in Neonatal Care, 2009 - journals.lww.com
Abstract Beckwith–Wiedemann Syndrome (BWS) is the most common overgrowth syndrome
in infancy. The characteristic findings are macroglossia, abdominal wall defects, and …

High incidence of malformation syndromes in a series of 1,073 children with cancer

JHM Merks, HN Caron… - American journal of …, 2005 - Wiley Online Library
Constitutional molecular defects are known to play a role in oncogenesis, as shown by the
increased incidence of embryonic cancers in children with Beckwith–Wiedemann syndrome …

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome

AC Smith, T Rubin, C Shuman, L Estabrooks… - … and Genome Research, 2006 - karger.com
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome demonstrating
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …

Screening for Wilms tumor and hepatoblastoma in children with Beckwith‐Wiedemann syndromes: A cost‐effective model

DE McNeil, M Brown, A Ching… - Medical and Pediatric …, 2001 - Wiley Online Library
Background We undertook a cost‐benefit analysis of screening for Wilms tumor and
hepatoblastoma in children with Beckwith‐Wiedemann syndrome (BWS), a known cancer …

[HTML][HTML] Maxillo-facial morphology in Beckwith-Wiedemann syndrome: A preliminary study on (epi) genotype-phenotype association in caucasians

P Defabianis, A Mussa, R Ninivaggi, D Carli… - International Journal of …, 2022 - mdpi.com
Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by
various (epi) genetic alterations affecting the expression of genes on chromosome 11p15 …

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 …

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

WWK Lam, I Hatada, S Ohishi, T Mukai… - Journal of medical …, 1999 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable
phenotype. The major features are anterior abdominal wall defects including exomphalos …

Prenatal diagnosis of Beckwith–Wiedemann syndrome

DH Williams, DW Gauthier… - … Diagnosis: Published in …, 2005 - Wiley Online Library
Abstract Objectives The diagnosis of Beckwith–Wiedemann syndrome (BWS) typically is
made after birth. To our knowledge, no established guidelines exist for the prenatal …

[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 …

Brain abnormalities in patients with Beckwith–Wiedemann syndrome

K Gardiner, D Chitayat, S Choufani… - American Journal of …, 2012 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder with variability in clinical
manifestations and molecular causes. In most cases, patients with BWS have normal …