Evidence map›Paper›PMID 40877950›Full record

ArticleOrphanet journal of rare diseases2025

Congenital melanocytic nevi in Bardet-Biedl syndrome.

Karli Shelton, Phu Dang, Courtney McCorkle, Pooja Mallipaddi, Nicholas Hollman, Jeremy Pomeroy, Jesse Richards

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. 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
–field-weighted citation impact
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. Review
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

7 authors.

Karli SheltonDepartment of Internal Medicine, OU-TU School of Community Medicine, Tulsa, USA.
Phu DangOU-TU School of Community Medicine, Tulsa, USA.
Courtney McCorkleOU-TU School of Community Medicine, Tulsa, USA.
Pooja MallipaddiDepartment of Internal Medicine, OU-TU School of Community Medicine, Tulsa, USA.
Nicholas HollmanOffice for Research Development, OU-TU School of Community Medicine, Tulsa, USA.
Jeremy PomeroyMarshfield Clinic Health System, Marshfield, USA.
Jesse RichardsDepartment of Internal Medicine, OU-TU School of Community Medicine, Tulsa, USA. Jesse-R-Richards@ouhsc.edu.ORCID 0009-0004-7985-8882

Funding

Tulsa School of Community MedicineUniversity of Oklahoma
6 · The paper itself

Abstract

backgroundBardet-Biedl Syndrome (BBS) is a rare obesogenic disorder affecting multiple organs. The diagnosis of BBS is usually difficult and delayed due to this syndrome's wide variety of clinical features. This study aims to assess the rate of congenital melanocytic nevi (CMN) in the BBS population in an effort to bring light to an easily assessable and early manifestation of BBS to aid in earlier diagnosis.

methodsWe utilized a survey distributed to patients with BBS registered within the Clinical Registry Investigating Bardet-Biedl Syndrome database. Analysis was performed to identify participants with CMN and their prevalence of major and minor symptoms of the diagnostic criteria for BBS.

resultsData from 67 patients with BBS were gathered from our surveys. Of those participants, 23.9% reported having a CMN. Patients with CMN were more likely to have abnormal reproductive health issues, high arched palate, missing teeth, dental crowning, short teeth roots, and webbed fingers and toes.

conclusionOur findings suggest that BBS is associated with CMN, possibly through altered neural crest cell migration. Screening for CMN shows a promise as a potential non-invasive screening tool to aid in earlier diagnosis of BBS.

Indexed as

Bardet-Biedl SyndromeNevus, PigmentedAdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleSkin NeoplasmsYoung AdultBardet-BiedlCongenital melanocytic neviGenetic diseaseObesity

Identifiers

PMID40877950
PMCPMC12395923

What OpenQuestion holds

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Registered trials

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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.