Hemifacial Microsomia: Clinical Features and Associated Anomalies.

Area of Science:

• Medical Genetics
• Craniofacial Anomalies
• Pediatric Surgery

Background:

• Hemifacial microsomia (HFM) is a common congenital facial anomaly with variable severity.
• Existing classification systems like OMENS+ aid in standardizing HFM assessment.
• Understanding demographic and clinical patterns is crucial for HFM management.

Purpose of the Study:

• To review demographic characteristics and clinical findings in Egyptian HFM patients.
• To correlate these findings with existing international literature.
• To highlight the phenotypic variability of HFM in a specific population.

Main Methods:

• Retrospective review of 39 Egyptian patients diagnosed with HFM.
• Analysis of affected facial sides, OMENS+ classification components (orbit, mandible, ear, facial nerve, soft tissue).
• Comparison of collected data with published literature.

Main Results:

• Right-sided HFM predominated (48.7%); male-to-female ratio was 1:1.4.
• Most patients had normal orbits (64%) and facial nerves (82%), with mild mandibular hypoplasia (58%).
• Significant ear deformities were common (44% E3), and soft tissue hypoplasia was mild (52%).

Conclusions:

• HFM presents with considerable phenotypic variability, with potential inter-component relationships.
• Epidemiological and clinical findings in Egyptian patients showed some divergence from Western cohorts.
• Further multi-center studies are recommended due to the small sample size and observed variations.