PHACE Syndrome: A Rare Case
Abstract PHACE syndrome (OMIM 606519) is a rare neurocutaneous vascular disorder, characterized by posterior fossa malformations, large cervicofacial infantile hemangiomas, arterial anomalies, aortic coarctation, cardiac abnormalities, and eye abnormalities. The long-term outcome of PHACE syndrome p...
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Published in | Journal of pediatric genetics (Birmingham, Ala.) Vol. 9; no. 1; pp. 027 - 031 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Stuttgart · New York
Georg Thieme Verlag KG
01.03.2020
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Subjects | |
Online Access | Get full text |
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Summary: | Abstract
PHACE syndrome (OMIM 606519) is a rare neurocutaneous vascular disorder, characterized by posterior fossa malformations, large cervicofacial infantile hemangiomas, arterial anomalies, aortic coarctation, cardiac abnormalities, and eye abnormalities. The long-term outcome of PHACE syndrome patients is unclear; however, it seems that they are at risk for childhood stroke. The radiologist has an important role on diagnosis of PHACE syndrome and in the assessment of potential complications. Investigation of infants with segmental craniofacial hemangiomas should include cranial magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the cerebral and cervical arteries. Brain MRI and MRA findings of a 5-year-old female patient with PHACE syndrome are presented. |
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ISSN: | 2146-4596 2146-460X |
DOI: | 10.1055/s-0039-1694705 |