A new facial analysis method detects genetic syndromes with high precision and specificity

November 13, 2019

Each year, over a million children are born with a genetic disease. Although about half of genetic syndromes present facial dysmorphology, abnormal facial features are often subtle at birth and their identification by paediatricians can prove challenging. Delays and errors in diagnosis have a significant impact on mortality and morbidity associated with genetic syndromes. By way of example, the average accuracy in the detection of one of the most studied genetic syndromes, Down syndrome, by a trained paediatrician is as low as 64% in the US, and so methods for the early detection of genetic syndromes become very important.

Today, facial analysis of children from photographs is a technique that allows early identification of genetic syndromes. However, images may suffer problems of calibration and illumination. Although 3D photography overcomes some of these problems, 3D scanners to quantify craniofacial dysmorphology in children are expensive and often not available at all health centres. A recent study presents a new method to optimize facial analysis that enables reconstructing the face in 3D from 2D photographs.

Araceli Morales, Gemma Piella and Federico Sukno, members of the SIMBIOsys research group and of the Cognitive Media Technologies of the Department of Information and Communication Technologies (DTIC) at UPF, together with researchers from the University of Washington (USA) are the authors of this work published on 7 October in the online edition of Lecture Notes in Computer Science. The article describes the new optimization method to perform 3D facial reconstructions of the shape of children's faces from uncalibrated 2D photographs using a new statistical model.

First, for each 2D photo, the new method estimates the camera pose using a statistical model and a set of 2D facial landmarks. Secondly, the method calculates the camera pose and the parameters of the statistical model by minimizing the distance between the projection of the estimated 3D face in the image plane of each camera and the observed 2D face geometry.

"Using reconstructed 3D faces, we automatically extract a set of 3D geometric and appearance descriptors and we use them to train a classifier to identify facial dysmorphology associated with genetic syndromes", explains Araceli Morales, first author of the article who is working on this research for her doctoral thesis which is being supervised by Federico Sukno.

The face reconstruction method on 3D photographs was evaluated in 54 subjects (age range 0-3 years), and "our classifier identified genetic syndromes in reconstructed 3D faces from 2D photographs with 100% sensitivity and a specificity of 92.11%", the authors explain in their article.
-end-


Universitat Pompeu Fabra - Barcelona

Related Children Articles from Brightsurf:

Black and Hispanic children in the US have more severe eczema than white children
A presentation at this year's virtual American College of Allergy, Asthma and Immunology (ACAAI) Annual Scientific Meeting reveals the disparities that exist for Black and Hispanic children when it comes to Atopic Dermatitis (AD), commonly known as eczema.

Black children with cancer three times less likely to receive proton radiotherapy than White children
A retrospective analysis led by investigators from Brigham and Women's Hospital has found racial disparities in the use of the therapy for patients enrolled in trials.

The Lancet Child & Adolescent Health: First Europe-wide study of children confirms COVID-19 predominately causes mild disease in children and fatalities are very rare
Children with COVID-19 generally experience a mild disease and fatalities are very rare, according to a study of 582 patients from across Europe published today in The Lancet Child & Adolescent Health journal.

Children not immune to coronavirus; new study from pandemic epicenter describes severe COVID-19 response in children
- While most children infected with the novel coronavirus have mild symptoms, a subset requires hospitalization and a small number require intensive care.

How many children is enough?
Most Russians would like to have two children: a boy and a girl.

Preterm children have similar temperament to children who were institutionally deprived
A child's temperament is affected by the early stages of their life.

Only-children more likely to be obese than children with siblings
Families with multiple children tend to make more healthy eating decisions than families with a single child.

Children living in countryside outperform children living in metropolitan area in motor skills
Residential density is related to children's motor skills, engagement in outdoor play and organised sports. that Finnish children living in the countryside spent more time outdoors and had better motor skills than their age peers in the metropolitan area.

Hispanic and black children more likely to miss school due to eczema than white children
In a study that highlights racial disparities in the everyday impact of eczema, new research shows Hispanic and black children are more likely than white children to miss school due to the chronic skin disease.

Children, their parents, and health professionals often underestimate children's higher weight status
More than half of parents underestimated their children's classification as overweight or obese -- children themselves and health professionals also share this misperception, according to new research being presented at this year's European Congress on Obesity (ECO) in Glasgow, UK (April 28-May 1).

Read More: Children News and Children Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.