Spatial and temporal changes of midface in Apert's syndrome

Area of Science:

• Craniofacial development
• Genetics and developmental biology
• Medical imaging and diagnostics

Background:

• Apert's syndrome is characterized by a dysplastic maxilla and retracted zygoma.
• The cranial base and facial development have a significant relationship.
• Understanding temporal maldevelopment patterns is crucial.

Purpose of the Study:

• To explore temporal relationships in maldevelopment of cranial base and facial structures in Apert's syndrome.
• To identify potential influence patterns of these malformations.
• To analyze early developmental changes in Apert's syndrome.

Main Methods:

• Utilized 54 CT scans (18 Apert's, 36 control) divided into three age subgroups (0-6 months, 6 months-2 years, 2-6 years).
• Performed cephalometric analysis using Materialize software for midface and cranial base measurements.
• Compared anteroposterior, transverse, and vertical dimensions between Apert's patients and controls.

Main Results:

• Prior to 6 months, zygoma was 12% retruded and maxilla 22% shorter anteroposteriorly in Apert's patients.
• Zygoma showed persistent retrusion (17% shorter) and increased transverse width (14% wider overall) into adulthood.
• Maxilla exhibited normal transverse and vertical growth, but maintained an 18% anteroposterior deficiency.

Conclusions:

• The zygoma is the most severely deformed facial structure in early infancy in Apert's syndrome.
• Early zygoma malformation may act as a 'bridge', transmitting stresses to facial structures and the maxilla.
• Premature fusion of coronal and peri-zygomatic sutures likely contributes to these malformations.