ReviewFrontiers in pediatrics2019
Diagnosis and Management of Beckwith-Wiedemann Syndrome.
Review in Frontiers in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
76 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- Beckwith-Wiedemann syndrome and medullary sponge kidney: a case report of two rare but related entities.The Canadian journal of urology · 2026Article
- Fetal Hepatosplenomegaly: Stepwise Diagnostic Framework, Diagnostic Approach to Fetal Hepatosplenomegaly.Journal of clinical medicine · 2026Review
- Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygousJCEM case reports · 2026Article
- Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2026Article
- Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review.Translational pediatrics · 2026Review
- A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum.BMC medical genomics · 2026Article
- Challenges and emerging strategies for genome-wide evaluation of loss of imprinting in cancer.British journal of biomedical science · 2026Review
- Peripersonal space and interpersonal distance as windows onto multisensory body representation in adolescents with overgrowth syndromes.Frontiers in human neuroscience · 2026Article
- Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.Italian journal of pediatrics · 2025Review
- Placental Mesenchymal Dysplasia: How to Approach the Diagnosis as Early as the First Trimester? A Case Report and a Review.Clinical case reports · 2025Article
- Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configuration.NAR molecular medicine · 2025Article
- Upper Extremity Manifestations of Beckwith-Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years.Journal of hand surgery global online · 2025Article
- Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.Translational pediatrics · 2025Article
- [Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.Orphanet journal of rare diseases · 2025Article
- Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.Genome medicine · 2025Article
- Case Report: Beckwith-Wiedemann syndrome with reducedFrontiers in pediatrics · 2025Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It is associated with genetic and epigenetic changes on the chromosome 11p15 region, which includes two imprinting control regions. Here we review strategies for diagnosing and managing BWS and delineate commonly used genetic tests to establish a molecular diagnosis of BWS. Recommended first-line testing assesses DNA methylation and copy number variation of the BWS region. Tissue mosaicism can occur in patients with BWS, posing a challenge for genetic testing, and a negative test result does not exclude a diagnosis of BWS. Further testing should analyze additional tissue samples or employ techniques with higher diagnostic yield. Identifying the BWS molecular subtype is valuable for coordinating patient care because of the (epi)genotype-phenotype correlations, including different risks and types of embryonal tumors.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.