Altin Hakan, Alp Hayrullah, Sap Fatih, Karataş Zehra, Baysal Tamer, Karaaslan Sevim
Department of Pediatric Cardiology, Meram Medical Faculty, Selcuk University, Konya, Turkey.
Pediatr Dermatol. 2012 May-Jun;29(3):316-9. doi: 10.1111/j.1525-1470.2011.01540.x. Epub 2011 Oct 20.
PHACE syndrome is characterized by posterior fossa malformations (P), large facial hemangiomas (H), arterial anomalies (A), cardiac anomalies or coarctation of aorta (C), and eye anomalies (E) and has striking female predominance. Endocrine abnormalities have recently been described in these patients, involving the thyroid and pituitary glands. We report the case of a 2-year-old girl with the clinical features of PHACE with absence of bilateral internal carotid arteries and isolated growth hormone deficiency.
PHACE综合征的特征为后颅窝畸形（P）、巨大面部血管瘤（H）、动脉异常（A）、心脏异常或主动脉缩窄（C）以及眼部异常（E），且女性明显居多。最近在这些患者中发现了内分泌异常，涉及甲状腺和垂体。我们报告了一例2岁女孩，具有PHACE综合征的临床特征，双侧颈内动脉缺如并伴有孤立性生长激素缺乏。
