Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
22000 participants
OBSERVATIONAL
2025-01-01
2028-03-01
Brief Summary
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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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Detailed Description
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Conditions
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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Patients
Clinical data reuse
Clinical data reuse
Controls
Clinical data reuse
Clinical data reuse
Interventions
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Clinical data reuse
Clinical data reuse
Eligibility Criteria
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Inclusion Criteria
* Patients undergoing maxillofacial surgery, or craniofacial surgery as part of the management of a pathology, of genetic origin or not, associated with dysmorphism of the head and neck,
* Patients for whom frontal and profile facial photographs are taken as part of their treatment.
* Patients followed in maxillofacial surgery, for a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).
* Patients for whom frontal and profile facial photographs are taken as part of their treatment.
The criteria for non-inclusion of patients are:
* Patients who have undergone facial or skull surgery before the first photo was taken.
* Person subject to a judicial safeguard measure.
* People objecting to the reuse of their health data.
The criteria for non-inclusion of control subjects are:
* Pathologies affecting facial symmetry (dental cellulitis, displaced fractures).
* Patient followed for dysmorphic syndrome or in whom dysmorphic syndrome has been suspected.
* Person subject to a judicial safeguard measure.
* People objecting to the reuse of their health data.
ALL
No
Sponsors
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Imagine Institute
OTHER
Responsible Party
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Locations
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Necker - Hôpital des Enfants Malades
Paris, , France
Countries
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Central Contacts
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Other Identifiers
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AIDY 2
Identifier Type: -
Identifier Source: org_study_id
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