Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Wendelin, G; Kitzmüller, E; Salzer-Muhar, U.
PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels.
Cardiol Young. 2004; 14(2): 206-209.
Doi: 10.1017/S1047951104002173
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Wendelin Gerald
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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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - diagnosis
- Aortic Coarctation - diagnosis
- Cardiac Surgical Procedures - methods
- Child - methods
- Cranial Fossa, Posterior - abnormalities
- Female - abnormalities
- Follow-Up Studies - abnormalities
- Heart Defects, Congenital - diagnosis
- Hemangioma - diagnosis
- Humans - diagnosis
- Magnetic Resonance Angiography - diagnosis
- Neurocutaneous Syndromes - diagnosis
- Risk Factors - diagnosis
- Sternum - abnormalities
- Treatment Outcome - abnormalities
- Vascular Surgical Procedures - methods
- Find related publications in this database (Keywords)
- PHACE
- haemangiomas
- arterial anomalies
- aortic anomalies
- cardiac defects