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PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

Published online by Cambridge University Press:  20 January 2005

Gerald Wendelin ,
Erwin Kitzmüller  and
Ulrike Salzer-Muhar
Gerald Wendelin
Affiliation:
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria
Erwin Kitzmüller
Affiliation:
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria
Ulrike Salzer-Muhar
Affiliation:
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria
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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.

Keywords

PHACEhaemangiomasarterial anomaliesaortic anomaliescardiac defects
Type
Brief Report
Information
Cardiology in the Young , Volume 14 , Issue 2 , April 2004 , pp. 206 - 209
Copyright
© 2004 Cambridge University Press

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