{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:12:57Z","timestamp":1763035977861},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2005,1,20]],"date-time":"2005-01-20T00:00:00Z","timestamp":1106179200000},"content-version":"unspecified","delay-in-days":294,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2004,4]]},"abstract":"<jats:p>The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, \u201cP\u201d accounts for malformation of the brain in the region of the posterior fossa, \u201cH\u201d stands for haemangiomas, \u201cA\u201d is for arterial anomalies, and \u201cC\u201d is for coarctation of the aorta along with cardiac defects, \u201cE\u201d is for abnormalities of the eye, and \u201cS\u201d 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.<\/jats:p>","DOI":"10.1017\/s1047951104002173","type":"journal-article","created":{"date-parts":[[2005,2,3]],"date-time":"2005-02-03T13:22:39Z","timestamp":1107436959000},"page":"206-209","source":"Crossref","is-referenced-by-count":20,"title":["PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels"],"prefix":"10.1017","volume":"14","author":[{"given":"Gerald","family":"Wendelin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erwin","family":"Kitzm\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Salzer-Muhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2005,1,20]]},"reference":[{"key":"S1047951104002173_ref010","doi-asserted-by":"crossref","unstructured":"James PA , McGaughran J . Complete overlap of PHACE syndrome and sternal malformation\u2013vascular dysplasia association. Am J Med Genet 2002; 110: 78\u201384.","DOI":"10.1002\/ajmg.10398"},{"key":"S1047951104002173_ref008","doi-asserted-by":"crossref","unstructured":"Metry DW , Dowd CF , Barkovich AJ , Frieden IJ . The many faces of PHACE syndrome. J Pediatr 2001; 139: 117\u2013123.","DOI":"10.1067\/mpd.2001.114880"},{"key":"S1047951104002173_ref003","doi-asserted-by":"crossref","unstructured":"Pascual-Castroviejo I . Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas. Neuroradiology 1978; 16: 82\u201384.","DOI":"10.1007\/BF00395211"},{"key":"S1047951104002173_ref005","doi-asserted-by":"crossref","unstructured":"Gorlin RJ , Kantaputra P , Aughton DJ , Mulliken JB . Marked female predilection in some syndromes associated with facial hemangiomas. Am J Genet 1994; 52: 130\u2013135.","DOI":"10.1002\/ajmg.1320520203"},{"key":"S1047951104002173_ref009","doi-asserted-by":"crossref","unstructured":"Coats DK , Paysse EA , Levy ML . PHACE: A neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology 1999; 106: 1739\u20131741.","DOI":"10.1016\/S0161-6420(99)90350-0"},{"key":"S1047951104002173_ref006","unstructured":"Pascual-Castroviejo I , Viano J , Moreno F , Palencia R , Martinez-Fernandez V , Pascual-Pascual SI , Martinez-Bermejo A , Garcia-Penas JJ , Roche MC . Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. Am J Neuroradiol 1996; 17: 461\u2013471."},{"key":"S1047951104002173_ref007","doi-asserted-by":"crossref","unstructured":"Drolet BA , Esterly NB , Frieden IJ . Hemangiomas in children. N Engl J Med 1999; 341: 173\u2013181.","DOI":"10.1056\/NEJM199907153410307"},{"key":"S1047951104002173_ref004","doi-asserted-by":"crossref","unstructured":"Frieden IJ , Reese V , Cohen D . PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996; 132: 307\u2013311.","DOI":"10.1001\/archderm.1996.03890270083012"},{"key":"S1047951104002173_ref001","doi-asserted-by":"crossref","unstructured":"Metry D , Herbert AA . Benign cutaneous vascular tumors of infancy. When to worry, what to do. Arch Dermatol 2000; 136: 905\u2013914.","DOI":"10.1001\/archderm.136.7.905"},{"key":"S1047951104002173_ref002","doi-asserted-by":"crossref","unstructured":"Burns AJ , Kaplan LC , Mulliken JB . Is there an association between hemangioma and syndromes with dysmorphic features? Pediatrics 1991; 88: 1257\u20131267.","DOI":"10.1542\/peds.88.6.1257"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951104002173","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T23:40:33Z","timestamp":1682984433000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951104002173\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,4]]}},"alternative-id":["S1047951104002173"],"URL":"https:\/\/doi.org\/10.1017\/s1047951104002173","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4]]}}}