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  • Title: PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels.
    Author: Wendelin G, Kitzmüller E, Salzer-Muhar U.
    Journal: Cardiol Young; 2004 Apr; 14(2):206-9. PubMed ID: 15691414.
    Abstract:
    The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, "P" accounts for malformation of the brain in the region of the posterior fossa, "H" stands for haemangiomas, "A" is for arterial anomalies, and "C" is for coarctation of the aorta along with cardiac defects, "E" is for abnormalities of the eye, and "S" for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.
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