Evidence map›Paper›PMID 37749604›Full record

ReviewItalian journal of pediatrics2023

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato, Andrea Riccio, Egidio Barbi, Luigi Memo, Laura Travan

Open access · goldAbstract readReviewCase Reports
In one paragraph

Review in Italian journal of pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Pierandrea ElefanteDepartment of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy. pier.elefante@gmail.com.ORCID http://orcid.org/0000-0002-9784-1652
Beatrice SpedicatiDepartment of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.
Flavio FaletraMedical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Laura PignataDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy.
Flavia CerratoDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy.
Andrea RiccioDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy.
Egidio BarbiDepartment of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.
Luigi MemoClinical Genetics, Department of Pediatrics, Ospedale San Bortolo, Vicenza, Italy.
Laura TravanNeonatal Intensive Care Unit, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
University of Campania "Luigi Vanvitelli" · ITUniversity of Trieste · ITIRCCS Materno Infantile Burlo Garofolo · ITOspedale San Bortolo · IT

Funding

Ministero della Salute Ministero della Salute
6 · The paper itself

Abstract

backgroundBeckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the prevalence of the condition in twins (1:1000) is ten times higher than in singletones (1:10000). CASE PRESENTATION: We report the case of a premature twin patient who during her follow-up develops a clinical phenotype compatible with BWS, genetically confirmed in blood. However, the methylation alteration characteristic of the condition was also found in the almost phenotypically normal sibling, making it challening her management.

conclusionThrough our case report we highlight how the diagnosis of BWS can be made without any prenatal suspicion and we propose a review of the literature on how to manage siblings of affected patients in twinning situation.

Indexed as

Beckwith-Wiedemann SyndromeChildFemaleGenotypeHumansPhenotypePregnancySiblingsTwinsBeckwith-wiedemann syndromeCase reportImprinting disordersTwinning

Identifiers

PMID37749604
PMCPMC10521437
OpenAlexW4387013031

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.