title: Agenesis of bilateral internal carotid arteries and posterior fossa abnormality in a patient with facial capillary hemangioma: presumed incomplete phenotypic expression of PHACE syndrome.
abstract: PHACE syndrome is a neurocutaneous syndrome with the following features: posterior fossa malformations of the brain, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities. We report a rare case of bilateral internal carotid artery agenesis with transcranial collaterals from the external carotid arteries and agenesis of the vertebrobasilar system in a possible PHACE syndrome. We suggest that the patient had an incomplete phenotypic expression of the PHACE syndrome. Although the phenotypic spectrum is broad and is still largely unexplored, the extent of the cephalic neural crest cells insulted genetically or by other causes at a certain time during the development of the embryo might explain the variable phenotypic expression of PHACE syndrome.
authors.affiliation: Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Kangnam-Ku, Seoul, Korea.
authors.forename: Young-Cheol
authors.initials: YC
authors.lastname: Weon
authors.forename: Jin-Il
authors.initials: JI
authors.lastname: Chung
authors.forename: Hyung-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Hong Sik
authors.initials: HS
authors.lastname: Byun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D015901:Angiography, Digital Subtraction; D002342:Carotid Artery, External / Q000002:abnormalities / Q000000981:diagnostic imaging; D002343:Carotid Artery, Internal / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003388:Cranial Fossa, Posterior / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005153:Facial Neoplasms / Q000473:pathology*; D005260:Female; D018324:Hemangioma, Capillary / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D013577:Syndrome; D014057:Tomography, X-Ray Computed