| PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. | |
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MedLine Citation:
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PMID: 21674285 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. MATERIALS AND 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). CONCLUSION: 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. |
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Authors:
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Jennifer Bracken; Ian Robinson; Aisling Snow; Rosemarie Watson; Alan D Irvine; David Rea; Ethna Phelan |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-15 |
Journal Detail:
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Title: Pediatric radiology Volume: - ISSN: 1432-1998 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-15 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Radiology, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland, jenny_bracken@hotmail.com. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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