PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.
PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities. We report the ocular and systemic findings, as well as the management course, of an infant who has all the characteristic features of PHACE syndrome and also describe what we believe to be the first reported case of this syndrome with Persistent Fetal Vasculature (PFV).
Lasky
Janice B
JB
Children's Memorial Hospital, Chicago, IL, USA. lasky@northwestern.edu
Sandu
Mariana
M
Balashanmugan
Aarthi
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001017:Aortic Coarctation / Q000175:diagnosis; D003103:Coloboma / Q000175:diagnosis*; D005153:Facial Neoplasms / Q000473:pathology*; D005260:Female; D005312:Fetal Blood; D018324:Hemangioma, Capillary / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D007908:Lens, Crystalline / Q000098:blood supply*; D018810:Magnetic Resonance Angiography; D010902:Pituitary Gland / Q000002:abnormalities; D013577:Syndrome; D014822:Vitreous Body / Q000002:abnormalities*