[Craniofacial strategy for syndromic craniosynostosis].

Area of Science:

• Craniofacial Surgery
• Pediatric Neurosurgery
• Genetics

Background:

• Faciocraniosynostosis involves complex skull and facial growth disturbances.
• Genetic mutations in FGFR (e.g., Crouzon, Pfeiffer, Apert syndromes) influence phenotype variability.
• Multidisciplinary management in rare disease centers is crucial.

Purpose of the Study:

• To outline a phenotype-driven surgical strategy for faciocraniosynostosis.
• To detail the timing and principles of surgical interventions.
• To emphasize long-term monitoring and management.

Main Methods:

• Phenotype-specific surgical planning based on FGFR mutation type.
• Early posterior expansion/distraction (around 6 months) for cerebellar tonsil descent and turricephaly.
• Fronto-facial monobloc advancement with internal distraction (around 18 months) for severe exorbitism/breathing issues.
• Dissociated strategy: fronto-orbital advancement followed by Le Fort 3 osteotomy.
• Continuous monitoring of intracranial pressure (fundus examination) and respiration (polysomnography).

Main Results:

• Surgical timing is dictated by growth and monitored parameters.
• Le Fort 3 and maxillary distraction may require repetition.
• Orthognathic surgery is typically necessary post-adolescence (after age 14).
• Aesthetic refinements (rhinoplasty, genioplasty) are final stages.

Conclusions:

• A tailored, staged surgical approach is essential for managing faciocraniosynostosis.
• Long-term follow-up and adaptive treatment strategies ensure optimal functional and aesthetic results.
• Reference center management facilitates comprehensive care for these rare conditions.