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PHACE syndrome with severe aortic arch tortuosity: a case report
Yasuyuki Masuda1, Kayo Ogino1, Tomohiro Hayashi1
1Department of Pediatrics, Kurashiki Central Hospital, 1-1-1, Miwa, Kurashiki, Okayama 710-8602, Japan.
PHACE syndrome, a rare neurocutaneous disorder, can manifest with severe aortic arch tortuosity, leading to stenosis. This case highlights the importance of considering PHACE syndrome when this distinctive aortic morphology is identified in neonates.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Neurology
Background:
- PHACE syndrome is a complex neurocutaneous disorder.
- It involves posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects (often coarctation of the aorta), and eye abnormalities.
- Severe aortic arch tortuosity is an uncommon presentation.
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