RT Journal Article
SR Electronic
T1 Agenesis of Bilateral Internal Carotid Arteries and Posterior Fossa Abnormality in a Patient with Facial Capillary Hemangioma: Presumed Incomplete Phenotypic Expression of PHACE Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 2635
OP 2639
VO 26
IS 10
A1 Weon, Young-Cheol
A1 Chung, Jin-Il
A1 Kim, Hyung-Jin
A1 Byun, Hong sik
YR 2005
UL http://www.ajnr.org/content/26/10/2635.abstract
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.