Initial Management at Presentation
- Evaluate for need for immediate intervention: Each case must be evaluated individually, with the first aim being to prevent elevated ICP, visual compromise, and airway impairment and the second aim being to improve appearance.
- Plan for cosmetic reconstruction: If nothing needs to be done acutely, then an elective surgical plan can be made. Consideration is given to the need for skull vault expansion to reduce ICP, fronto-orbital advancement to enlarge orbits, and the like.
- Establish follow-up plan: If no elective plan for surgical intervention is made initially, a plan is established for how the patient will be monitored and what changes will lead to a reevaluation of the management plan.
- None: Treatment of craniofacial syndromic disorders is surgical, with no effective adjuvant therapies available.
- Team follow-up into adulthood: Regular follow-up is required from diagnosis to early adulthood. Clinical review, especially plastic surgical, neurosurgical, and ophthalmological review, is required. Annual follow-up is carried out of patients in stable phases of their treatment. In the early phases of treatment or in a period of instability, more frequent review may be necessary.
- Radiographic evaluation and ICP recording: In the event of features of concern, particularly related to possible elevated ICP or visual compromise, re-imaging with CT and/or MRI scan and, if necessary, ICP monitoring are carried out.
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