Article

3D phenotyping in a Colombian population reveals unique population and ontogenic facial patterns in genetic and rare disorders

2025-02-14

Abstract excerpt

<h4>ABSTRACT</h4> Up to 30-40% of genetic and rare disorders present with unique facial patterns. Clinical geneticists have traditionally assessed facial traits to suggest a first diagnosis and direct confirmatory genetic testing. However, to enhance the accuracy of early diagnosis using facial biomarkers, it is crucial to analyze the complexity of facial dysmorphologies using 3D technologies, further understand h...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2ee47a28-6509-5432-8302-95222963eba2
DOI: 10.1101/2025.02.11.25322000

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

3D phenotyping in a Colombian population reveals unique population and ontogenic facial patterns in genetic and rare disordersDOI 10.1101/2025.02.11.25322000Read

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian populationSemantic proximity Read

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.Semantic proximity Read

Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Semantic proximity Read

An interactive atlas of three-dimensional syndromic facial morphology.Semantic proximity Read

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat SyndromeSemantic proximity Read

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.Semantic proximity Read

Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.Semantic proximity Read

Cornelia de Lange syndrome in diverse populationsSemantic proximity Read

Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non-European descent: National Human Genome Research Institute launches online database of facial phenotypes targeting diverse populations.Semantic proximity Read

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesSemantic proximity Read

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Semantic proximity Read