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โ† Trials
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FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects

Recruitingn/aAges any - anyAllImagine Institute
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In plain words

What the trial is, and whether it could suit you

FACE.S-4-KIDS is an ambitious database project addressing the scientific question of the variable expression of craniofacial disorders in humans, to reach a sound clinical management (diagnosis, prognosis), and the establishment of personalised treatment plans.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria for patients: 1. Patients suffering from one of the following pathologies: craniostenosis linked to FGFR signaling, achondroplasia / hypochondroplasia, osteogenesis imperfecta, Pierre Robin sequence (with or without anatomical markers). 2. Patients who may or may not have benefited from genome sequencing as part of their care and who (or holders of parental authority where applicable) have consented to the conservation of the remains of their biological samples in one of these collections: * Chondroplasia and craniostenosis, * Constitutional Bone Diseases, * Developmental anomalies. 3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their care. Inclusion Criteria for controls: 1. Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, with none of these pathologies: FGFR-related craniosynostoses Chondroplasia / hypochondroplasia Osteogenesis imperfecta Pierre Robin sequence (with or without anatomical marker) 2. Patients who have benefited from genome sequencing as part of their care and who have (or holders of parental authority where applicable) consented to the conservation of the remains of their biological samples in the "Infectious Diseases" collection . 3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment. Non-inclusion Criteria: Opposition of the patient or his parents to the reuse of their data from care in this study
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What it tests

  • Not listed
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Where

1 site
Pr Stanislas Lyonnet
Paris, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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