The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs. It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays
Study Type
OBSERVATIONAL
Enrollment
22,000
Clinical data reuse
Necker - Hôpital des Enfants Malades
Paris, France
RECRUITINGLearning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Time frame: through study completion, an average of 1 year
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Time frame: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on ethnicity
Study the facial characteristics of a syndrome depending on ethnicity
Time frame: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on age
Study the facial characteristics of a syndrome depending on age
Time frame: through study completion, an average of 1 year
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