PHACES syndrome with ectopia cordis and hemihypertrophy

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Dermatology

Background:

• PHACES syndrome is a rare neurocutaneous disorder characterized by specific anomalies.
• It involves posterior fossa, facial hemangioma, cardiac, eye, and sternal defects.
• Over 300 cases have been reported globally.

Observation:

• A newborn presented with clinical signs of PHACES syndrome, including a sternal cleft and facial hemangioma.
• Brain MRI was crucial for confirming the diagnosis by revealing posterior fossa anomalies.
• The patient later developed hemihypertrophy, an unusual manifestation.

Findings:

• This case represents a variant presentation of PHACES syndrome.
• The study identified a novel association between PHACES syndrome and hemihypertrophy.
• Diagnostic imaging, particularly MRI, is vital for comprehensive PHACES evaluation.

Implications:

• This finding expands the known phenotypic spectrum of PHACES syndrome.
• It suggests the need for vigilance regarding hemihypertrophy in PHACES patients.
• Further research may elucidate the underlying mechanisms connecting these conditions.