PT - JOURNAL ARTICLE AU - Young-Cheol Weon AU - Jin-Il Chung AU - Hyung-Jin Kim AU - Hong sik Byun TI - Agenesis of Bilateral Internal Carotid Arteries and Posterior Fossa Abnormality in a Patient with Facial Capillary Hemangioma: Presumed Incomplete Phenotypic Expression of PHACE Syndrome DP - 2005 Nov 01 TA - American Journal of Neuroradiology PG - 2635--2639 VI - 26 IP - 10 4099 - http://www.ajnr.org/content/26/10/2635.short 4100 - http://www.ajnr.org/content/26/10/2635.full SO - Am. J. Neuroradiol.2005 Nov 01; 26 AB - Summary: 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.