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

FACE.S-4-KIDS takes advantage of large cohorts of well-characterized and genotyped craniofacial anomaly patients, clinical departments (medical, surgical and imaging) with dysmorphology experts, and leading basic science laboratories, all located on a single site, and generating vast amounts of data - patient records, imaging, photographs, genomics, models - but lacking a unifying structure allowing multimodal assessments.

Inclusion criteria

for patients:

• 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 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.
• Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.

Inclusion criteria

for controls:

• 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)

• 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 .
• 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