Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation

Key Points

• Severe intracranial hypertension was observed in a case of Crouzon syndrome with isolated temporal squamosal suture synostosis, affecting treatment decisions.
• The presence of a de novo fgfr2 p.Cys342Tyr mutation highlighted significant phenotypic variability within Crouzon syndrome cases.
• Case analysis included detailed clinical assessments that demonstrated the unique presentation and complications of this condition.
• The findings underscore the need for personalized approaches in managing Crouzon syndrome, given its phenotypic diversity.