title: PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.
abstract: BACKGROUND
  PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma.
  
  
  OBJECTIVE
  To report the spectrum of clinical and imaging abnormalities seen in a cohort of children.
  
  
  METHODS
  A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities.
  
  
  RESULTS
  Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1).
  
  
  CONCLUSIONS
  Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.
authors.affiliation: Department of Radiology, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. jenny_bracken@hotmail.com
authors.forename: Jennifer
authors.initials: J
authors.lastname: Bracken
authors.forename: Ian
authors.initials: I
authors.lastname: Robinson
authors.forename: Aisling
authors.initials: A
authors.lastname: Snow
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Watson
authors.forename: Alan D
authors.initials: AD
authors.lastname: Irvine
authors.forename: David
authors.initials: D
authors.lastname: Rea
authors.forename: Ethna
authors.initials: E
authors.lastname: Phelan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001017:Aortic Coarctation / Q000175:diagnosis* / Q000473:pathology; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D012189:Retrospective Studies; D013577:Syndrome