Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.
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.
Northern Regional Genetics Services, Auckland Hospital, Auckland, New Zealand.
Paul A
PA
James
Julie
J
McGaughran
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001158:Arteries / Q000002:abnormalities*; D001808:Blood Vessels / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D013249:Sternum / Q000002:abnormalities*; D013577:Syndrome