PHACES综合征研究进展

Research advances in PHACES syndrome

血管瘤是儿童期最常见的良性肿瘤,一些少见病例可造成畸形。PHACES综合征是新近明确的以首字母缩写词组合而命名的一类病变,包括后颅窝畸形、血管瘤、动脉异常、主动脉狭窄和(或)心脏缺损、眼部异常及胸骨裂隙。其流行病学尚不清楚,但女性明显多发。全身系统性异常以神经及心脏畸形为主。本文就PHACES综合征的临床表现、诊断及治疗作一综述。

Hemangiomas are the most common benign tumors in infancy, and in rare cases, they can be associated with dysmorphic malformation. The acronym, PHACES syndrome is a cutaneous condition characterized by multiple congenital abnormalities, including： posterior fossa brain malformations, hemangiomas of the face, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies and sternal defects/supraumbilical raphe. Its prevalence is unknown, but has a striking female preponderance. Among the systemic abnormalities, neurological and cardiac malformations predominate. PHACES syndrome had been recognized as a new and independent entity. This review highlighted the recent findings in clinical feature, diagnosis and management of PHACES syndrome.