Evidence map›Paper›PMID 41751524›Full record

ReviewGenes2026

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Inês Lopes Cardoso, Maria Inês Guimarães, Laura Touboul, Fernanda Leal

Abstract readReview
In one paragraph

Review in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Inês Lopes CardosoRISE-Health, Faculty of Health Sciences, Fernando Pessoa University, Fernando Pessoa Teaching and Culture Foundation, 4249-004 Porto, Portugal.ORCID 0000-0002-0693-9831
Maria Inês GuimarãesRISE-Health, Faculty of Health Sciences, Fernando Pessoa University, Fernando Pessoa Teaching and Culture Foundation, 4249-004 Porto, Portugal.ORCID 0000-0003-3687-7798
Laura TouboulFaculty of Health Sciences, Fernando Pessoa University, Fernando Pessoa Teaching and Culture Foundation, 4249-004 Porto, Portugal.
Fernanda LealRISE-Health, Faculty of Health Sciences, Fernando Pessoa University, Fernando Pessoa Teaching and Culture Foundation, 4249-004 Porto, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesDiseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common orofacial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome.

methodsFor this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Science and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: "What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?".

resultsAfter selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review.

conclusionsGenetics plays a crucial role in craniofacial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias.

Indexed as

AcrocephalosyndactyliaCleidocranial DysplasiaCraniofacial AbnormalitiesEctodermal DysplasiaMouth AbnormalitiesHumansMutationPhenotypeApert syndromecleidocranial dysplasiacraniofacial dysplasiaectodermal dysplasiageneticsoral manifestations

Identifiers

PMID41751524
PMCPMC12940278

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.