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PHACES综合征——病例报告及文献综述

PHACES syndrome--case report and literature review.

作者信息

Roganović Jelena, Adams Denise

机构信息

Division of Hematology and Oncology, and Comprehensive Hemangiomas and Vascular Malformations Clinic, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

出版信息

Coll Antropol. 2009 Mar;33(1):311-4.

Abstract

The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare condition is reviewed.

摘要

报告了一例患有PHACES综合征的2个月大女婴病例。PHACES代表一系列广泛的先天性异常,包括以下主要特征:后颅窝脑畸形、大型面部血管瘤、动脉异常、心脏缺陷和主动脉缩窄、眼部异常以及腹部发育缺陷。对关于这种罕见病症的文献进行了综述。

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