Evidence map›Paper›PMID 42038232›Full record

ArticleFrontiers in pediatrics2026

Novel

Michele Minerva, Anna Maria Pinto, Filippo Toninelli, Andrea Francioni, Lorenzo Perilli, Elisa Laschi, Luisa Lonoce, Federica Lotti, Maria Rosaria Curcio, Chiara Fallerini and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2026. 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. 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

12 authors.

Michele MinervaClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Anna Maria PintoMedical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Filippo ToninelliClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Andrea FrancioniClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Lorenzo PerilliClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Elisa LaschiClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Luisa LonoceClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Federica LottiClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Maria Rosaria CurcioClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Chiara FalleriniMedical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Alessandra RenieriMedical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Salvatore GrossoClinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background/objectives: Malan syndrome (MALNS) is a rare overgrowth disorder caused by pathogenic Nuclear Factor I × ( Case presentation: We describe a patient with clinical features consistent with MALNS, including macrocephaly, developmental delay, and typical craniofacial features. Brain Magnetic Resonance Imaging (MRI) revealed the presence of CMI. Genetic testing identified a novel heterozygous variant in Conclusion: This case contributes to the clinical and molecular characterization of MALNS by linking a previously unreported

Indexed as

Chiari malformationmacrocephalyMalan syndromeNFIXovergrowth

Identifiers

PMID42038232
PMCPMC13106516

What OpenQuestion holds

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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.