A case of PHACE syndrome

Australas J Dermatol. 2005 Nov;46(4):253-6. doi: 10.1111/j.1440-0960.2005.00195.x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Aortic Coarctation / diagnosis*
  • Dandy-Walker Syndrome / diagnosis*
  • Facial Neoplasms / diagnosis*
  • Female
  • Follow-Up Studies
  • Hemangioma
  • Humans
  • Infant
  • Syndrome
  • Trochlear Nerve Diseases / diagnosis