| Literature DB >> 12116276 |
Paul A James1, Julie McGaughran.
Abstract
PHACE syndrome is the term applied to the association of posterior fossa brain abnormalities, hemangiomas, arterial anomalies in the cranial vasculature, coarctation of the aorta/cardiac defects, and eye abnormalities. An overlap with the sternal malformation/vascular dysplasia association has been described. We report an adult patient with complete manifestations of both conditions. As an adult she has demonstrated resolution of the hemangiomas and only mild intellectual difficulties.Entities:
Mesh:
Year: 2002 PMID: 12116276 DOI: 10.1002/ajmg.10398
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299