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Research & Information

Table of Contents

2024 Update on Surveillance for Wilms Tumor

American Association for Cancer Research

Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith–Wiedemann Syndrome and Other Predisposition Syndromes

Beckwith-Wiedemann Syndrome

Medline Plus

Basic information about the syndrome, including causes, frequency, inheritance, and additional information & resources.

Beckwith-Wiedemann Syndrome

Paulo A. Borjas Mendoza

Basic information about the syndrome, including etiology, epidemiology, diagnosis, prognosis, and complications.

Diagnosis and Management of
Beckwith-Wiedemann Syndrome

Frontiers in Pediatrics

Information about the diagnosis and management of Beckwith-Wiedemann Syndrome, including molecular mechanisms of the syndrome and genetic testing information.

Prevalence of Beckwith Wiedemann Syndrome and Risk of Embryonal
Tumors in Children Born with Omphalocele

Journal of Pediatric Surgery

Children with omphalocele have an increased prevalence of Beckwith Wiedemann
syndrome (BWS) and thus a suspected increased risk of developing embryonal tumors, e.g. Wilms tumor,
hepatoblastoma, neuroblastoma and rhabdomyosarcoma. The aim of this study was to examine the prevalence of BWS and the risk of embryonal tumors amongst patients born with omphalocele.

Implications of an Underlying Beckwith–Wiedemann
Syndrome for Wilms Tumor Treatment Strategies

Multidisciplinary Digital Publishing Institute

Information about the diagnosis and management of Beckwith-Wiedemann Syndrome, including molecular mechanisms of the syndrome and genetic testing information.

Macroglossia: The Role of Surgical Tongue Reduction

Jeffrey L. Marsh, MD1
Chad A. Perlyn, MD, PhD2

Information about the impacts of macroglossia, and the effect of tongue reduction surgery on breathing, eating, speaking and dentoskeletal development in individuals
having BWS.

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann Syndrome

Various Authors

Cancer Prone Disease

Atlas of Genetics and Cytogenetics
in Oncology and Haematology

Information about the cancer risks associated with Beckwith-Wiedemann Syndrome.

Genetic Analysis in Beckwith–Wiedemann
Syndrome (BWS) Patients

American Journal of Medical Genetics

Information about the genetic components of Beckwith-Wiedemann Syndrome.

Aberrant Genomic Imprinting in Chromosome 11p15

The Journal of Pediatrics

Information about the chromosomal components of Beckwith-Wiedemann Syndrome.

Practical Genetics In association with Beckwith–Wiedemann Syndrome

European Journal of Human Genetics

Information about the genetic components of Beckwith-Wiedemann Syndrome.

Analysis of germline CDKN1C (p57KIP2)
Mutations

University of Birmingham

Analysis of germline CDKN1C (p57KIP2)
mutations in familial and sporadic
Beckwith-Wiedemann syndrome (BWS).

​Occurrence of Hepatoblastomas in Patients with
Beckwith–Wiedemann Spectrum

Multidisciplinary Digital Publishing Institute

Information about hepatoblastomas in BWS patients.

Molecular networks of hepatoblastoma predisposition and
oncogenesis in Beckwith-Wiedemann
syndrome Mutations

Children’s Hospital of Philadelphia,
Philadelphia, Perelman School of Medicine at the University of Pennsylvania

Co-existence of Beckwith-Wiedemann syndrome
and autism spectrum disorder

The Journal of Psychiatry and
Neurological Sciences

Oxidative Stress in Cancer-Prone Genetic Diseases in
Pediatric Age: The Role of Mitochondrial Dysfunction

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