A case of PHACE syndrome.
A young girl with PHACE syndrome presented with a posterior fossa malformation, a segmental telangiectatic right facial haemangioma, a novel aortic arch anomaly, a congenital right fourth cranial nerve palsy (not previously described in this syndrome) and Horner's syndrome. Hydrocephalus was limited to the intrauterine period and detection of the cardiovascular anomalies was a direct result of recognition of this syndrome. She has received laser treatment for the haemangioma and is awaiting surgical correction of her cranial nerve palsy.
Ross
Gayle
G
Royal Children's Hospital, Melbourne, Victoria, Australia.
Bekhor
Philip
P
Su
John
J
Marks
Michael
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001017:Aortic Coarctation / Q000175:diagnosis*; D003616:Dandy-Walker Syndrome / Q000175:diagnosis*; D005153:Facial Neoplasms / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006391:Hemangioma; D006801:Humans; D007223:Infant; D013577:Syndrome; D020432:Trochlear Nerve Diseases / Q000175:diagnosis