Evidence map›Paper›PMID 36400978›Full record

SynthesisChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2023

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.

Agnes Bille, Jon Foss-Skiftesvik, Marianne Juhler

Abstract readSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Non-syndromic craniosynostosis.Nature reviews. Disease primers · 2025
    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

3 authors.

Agnes BilleFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Jon Foss-SkiftesvikFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Marianne JuhlerFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. marianne.juhler@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe objective of this literature review was to provide a comprehensive and up-to-date overview of the current understanding of the genetic etiology for non-syndromic sagittal craniosynostosis.

methodsUsing the PubMed database and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), we systematically reviewed relevant records on germline genetics in children with non-syndromic sagittal craniosynostosis.

resultsTwo hundred two records were identified, of which 25 were included following title and abstract screening and subsequent full-text review. The 25 records in combination included 829 children with non-syndromic sagittal craniosynostosis. A likely pathogenic or pathogenic germline variant was reported for 9.8% of the 827 patients for whom germline genetic testing was performed. The reported variants were distributed across 50 different genes, with more than one variant detected in 13 genes.

conclusionBased on the existing literature, genetic predisposition is likely to play a role in at least 9% of children with non-syndromic sagittal craniosynostosis. Future studies will benefit from international consensus in terms of diagnostic nomenclature and a higher level of standardization across study methodologies and bioinformatic approaches.

Indexed as

CraniosynostosesChildDatabases, FactualGenetic Predisposition to DiseaseGenetic TestingHumansCraniosynostosisEtiologyGeneticsNon-syndromicSagittal suture

Identifiers

PMID36400978

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.