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    2016. Neurocutaneous Disorders.


    Heyer, Geoffrey L. 2015. Neurocutaneous Syndromes.


    Bayer, Michelle L. Frommelt, Peter C. Blei, Francine Breur, Johannes M.P.J. Cordisco, Maria R. Frieden, Ilona J. Goddard, Deborah S. Holland, Kristen E. Krol, Alfons L. Maheshwari, Mohit Metry, Denise W. Morel, Kimberly D. North, Paula E. Pope, Elena Shieh, Joseph T. Southern, James F. Wargon, Orli Siegel, Dawn H. and Drolet, Beth A. 2013. Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry). The American Journal of Cardiology, Vol. 112, Issue. 12, p. 1948.


    Chad, Lauren Dubinski, William Hawkins, Cynthia Pope, Elena Bernstein, Stacey and Chiasson, David 2012. Postmortem Vascular Pathology in PHACES Syndrome: A Case Report. Pediatric and Developmental Pathology, Vol. 15, Issue. 6, p. 507.


    Bagazgoitia, Lorea García-Peñas, Juan José Duat-Rodríguez, Anna Hernández-Martín, Ángela and Torrelo, Antonio 2010. Facial Capillary Malformation and Dyke-Davidoff-Masson Syndrome. Pediatric Neurology, Vol. 43, Issue. 3, p. 202.


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    Rudnick, Emily F. Chen, Eunice Y. Manning, Scott C. and Perkins, Jonathan A. 2009. PHACES syndrome: Otolaryngic considerations in recognition and management. International Journal of Pediatric Otorhinolaryngology, Vol. 73, Issue. 2, p. 281.


    van Doesburg, Margriet H. M. Breugem, Corstiaan C. Breur, Johannes M. P. J. Braun, Kees P. J. Speleman, Lucienne A. and Pasmans, Suzanne G. M. A. 2009. Segmental Facial Hemangiomas and Associated Structural Defects. Journal of Craniofacial Surgery, Vol. 20, Issue. 4, p. 1224.


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    Levin, JH and Kaler, SG 2007. Non-random maternal X-chromosome inactivation associated with PHACES. Clinical Genetics, Vol. 72, Issue. 4, p. 345.


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    Ruiz-de-Luzuriaga, Arlene M. Bardo, Dianna and Stein, Sarah L. 2006. PHACES association. Journal of the American Academy of Dermatology, Vol. 55, Issue. 6, p. 1072.


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

  • Gerald Wendelin (a1), Erwin Kitzmüller (a1) and Ulrike Salzer-Muhar (a1)
  • DOI: http://dx.doi.org/10.1017/S1047951104002173
  • Published online: 01 January 2005
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.

Copyright
Corresponding author
Correspondence to: Univ. Prof. Dr. Ulrike Salzer-Muhar MD, Universitätsklinik für Kinder- und Jugendheilkunde, Klinische Abteilung für Pädiatrische Kardiologie, Währinger Gürtel 18–20, A-1090 Wien, Austria. Tel: ++43 (0)1 40400 3217; Fax: ++43 (0)1 40400 3417; E-mail: ulrike.salzer@akh-wien.ac.at
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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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