A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

Area of Science:

• Genetics
• Pediatrics
• Craniofacial Biology

Background:

• 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion with variable phenotypes.
• Subtle facial features are often present in individuals with 22q11.2DS.

Purpose of the Study:

• To investigate craniofacial and dental characteristics in children with 22q11.2DS.
• To evaluate 3D facial scanning as a diagnostic tool for 22q11.2DS.

Main Methods:

• Analysis of 3D facial scans, 2D photos, radiographs, and dental casts in 20 children with 22q11.2DS.
• Comparison of 3D facial scans with a healthy control group using geometric morphometrics.
• Cephalometric analysis and assessment of occlusal and dental features.

Main Results:

• Facial hypoplasia in the lower face and a retruded mandible were common in the 22q11.2DS cohort.
• An enlarged cranial base angle was observed.
• A significantly higher prevalence of tooth agenesis (20%) was found in children with 22q11.2DS.

Conclusions:

• A retruded lower face is a common feature in 22q11.2DS.
• 3D facial surface scanning is an effective noninvasive tool for assessing craniofacial patterns in 22q11.2DS.
• Increased tooth agenesis is a notable dental finding in this syndrome.