PHACE syndrome: a retrospective review of 23 patients

Area of Science:

• Pediatric Neurology
• Medical Genetics

Background:

• PHACE syndrome is a rare multisystem disorder.
• Understanding its clinical spectrum and associated neurodevelopmental outcomes is crucial.

Purpose of the Study:

• To describe the clinical characteristics of 23 patients with PHACE syndrome.
• To identify and highlight neurodevelopmental occurrences in a subset of these patients.
• To compare findings with existing PHACE syndrome literature.

Main Methods:

• Retrospective case series.
• Clinical data review of 23 patients diagnosed with PHACE syndrome.

Main Results:

• The cohort exhibited clinical similarities to previously reported PHACE syndrome populations.
• A subset of patients presented with specific neurodevelopmental occurrences.
• Detailed characteristics of the neurodevelopmental findings were observed.

Conclusions:

• The findings in this cohort align with the established PHACE syndrome phenotype.
• The identification of neurodevelopmental occurrences underscores the importance of comprehensive assessment in affected children.
• Further research is warranted to elucidate the mechanisms and long-term impact of these neurodevelopmental issues.