Article

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

2022-11-29

Abstract excerpt

<h4>ABSTRACT</h4> Up to 40% of genetic and rare disorders (RD) present facial dysmorphologies. Visual assessment of facial gestalt is commonly used for clinical diagnosis, health management and treatment monitoring. Quantitative approaches to facial phenotypes are more objective and provide first diagnoses of RD with relatively high accuracy, but are mainly based on populations of European descent, disregarding th...

Topics

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

Identifiers and source

Literature Corpus work: a8caa784-1534-54d7-9ec5-2b04a89345f2
DOI: 10.1101/2022.11.25.22282761

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian populationDOI 10.1101/2022.11.25.22282761Read

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

3D phenotyping in a Colombian population reveals unique population and ontogenic facial patterns in genetic and rare disordersSemantic proximity Read

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

Computational facial analysis for rare Mendelian disorders.Semantic proximity Read

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

Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.Semantic proximity Read

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.Semantic proximity Read

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.Semantic proximity Read

Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.Semantic proximity Read

Comparing facial feature extraction methods in the diagnosis of rare genetic syndromesSemantic proximity Read

Comparing 2D and 3D representations for face-based genetic syndrome diagnosisSemantic proximity Read