Shabeeb Nadine M, Plager David A, Haggstrom Anita N
Indiana University School of Medicine, Indianapolis, Indiana.
Department of Ophthalmology, Indiana University Health, Indianapolis, Indiana.
J AAPOS. 2017 Aug;21(4):331-333. doi: 10.1016/j.jaapos.2017.04.010. Epub 2017 Jul 13.
PHACE syndrome is a rare neurocutaneous disorder, with a complex pathogenesis. It presents with a large facial hemangioma associated with anomalies of the posterior fossa of the brain, arterial anomalies, cardiac anomalies, coarctation of the aorta, and eye anomalies. Ocular abnormalities are rare. We report the first published case of an infant with PHACE syndrome and Peters anomaly.
PHACE综合征是一种罕见的神经皮肤疾病，发病机制复杂。其表现为大型面部血管瘤，伴有脑后颅窝异常、动脉异常、心脏异常、主动脉缩窄和眼部异常。眼部异常较为罕见。我们报告了首例发表的患有PHACE综合征和彼得斯异常的婴儿病例。
