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- Title
Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma.
- Authors
Demartini Jr., Zeferino; Gatto, Luana A.M.; Lages, Roberto Oliver; Francisco, Alexandre Novicki; Maeda, Adriano Keijiro; Koppe, Gelson Luis
- Abstract
PHACE(S) syndrome is a neurocutaneous syndrome with a wide array of presentations. The most known and present trait is facial hemangioma > 5 cm. The name is an acronym for Posterior fossa malformations, infantile Hemangiomas, Arterial anomalies, aortic Coarctation, Eye abnormalities, and middle-line malformations of the Sternum. The exact etiopathogenic mechanism of this syndrome is not fully understood, and its treatment depends on detailed and individualized assessment. The aim of this paper is to describe a child with a throat hemangioma, vascular malformations, cognitive delay, and other anomalies to illustrate the neuroimaging found in this syndrome.
- Subjects
PHACE syndrome; HEMANGIOMAS; AORTIC coarctation; EYE abnormalities; STERNUM abnormalities; BRAIN imaging
- Publication
Pediatric Neurosurgery, 2018, Vol 53, Issue 6, p421
- ISSN
1016-2291
- Publication type
Article
- DOI
10.1159/000493491