James Paul A, McGaughran Julie
Northern Regional Genetics Services, Auckland Hospital, Auckland, New Zealand.
Am J Med Genet. 2002 Jun 1;110(1):78-84. doi: 10.1002/ajmg.10398.
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.
PHACE综合征是指后颅窝脑异常、血管瘤、颅脑血管动脉异常、主动脉缩窄/心脏缺陷以及眼部异常同时出现的情况。已经有文献描述了它与胸骨畸形/血管发育异常综合征的重叠情况。我们报告了一位同时患有这两种疾病完整表现的成年患者。作为成年人，她的血管瘤已经消退，仅存在轻度智力障碍。
