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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients |
| ||
| Controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Clinical data reuse | Other | Clinical data reuse |
|
| Measure | Description | Time Frame |
|---|---|---|
| Learning 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. | through study completion, an average of 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | through study completion, an average of 1 year |
| Study the facial characteristics of a syndrome depending on ethnicity |
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The patient inclusion criteria are:
The inclusion criteria for control subjects are:
The criteria for non-inclusion of patients are:
The criteria for non-inclusion of control subjects are:
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Recruitment will be carried out either:
In Necker in the services of:
Outside Necker:
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yasmine Ainouz, MD | Contact | +33 1 42 75 45 65 | yasmine.ainouz@institutimagine.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Necker - Hôpital des Enfants Malades | Recruiting | Paris | France |
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| ID | Term |
|---|---|
| D000013 | Congenital Abnormalities |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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Study the facial characteristics of a syndrome depending on ethnicity |
| 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 | through study completion, an average of 1 year |