Literature DB >> 15691414

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

Gerald Wendelin1, Erwin Kitzmüller, Ulrike Salzer-Muhar.   

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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Year:  2004        PMID: 15691414     DOI: 10.1017/S1047951104002173

Source DB:  PubMed          Journal:  Cardiol Young        ISSN: 1047-9511            Impact factor:   1.093


  2 in total

1.  Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).

Authors:  Michelle L Bayer; Peter C Frommelt; Francine Blei; Johannes M P J Breur; Maria R Cordisco; Ilona J Frieden; Deborah S Goddard; Kristen E Holland; Alfons L Krol; Mohit Maheshwari; Denise W Metry; Kimberly D Morel; Paula E North; Elena Pope; Joseph T Shieh; James F Southern; Orli Wargon; Dawn H Siegel; Beth A Drolet
Journal:  Am J Cardiol       Date:  2013-09-28       Impact factor: 2.778

2.  PHACES association: a vasculocutaneous syndrome.

Authors:  Rohit P Rao; Beth A Drolet; Kristen E Holland; Peter C Frommelt
Journal:  Pediatr Cardiol       Date:  2008-04-22       Impact factor: 1.655

  2 in total

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