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.
Chondroplasia and craniostenosis,
Constitutional Bone Diseases,
Developmental anomalies.
Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.
None
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). Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, France.
Case-control
Cross-sectional
Not listed
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development
Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time
High-resolution craniofacial phenotyping parameters and their association with disease severity scores
Investigation of the origins of phenotypic variability linked to perturbations in a limited group of signaling pathways
Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies
Click on the lead sponsor to view all of their trials.
