上海口腔医学 ›› 2015, Vol. 24 ›› Issue (5): 470-473.

• 综述 • 上一篇    下一篇

4种与动静脉畸形相关的遗传性综合征

黄子贤, 黄志权   

  1. 中山大学孙逸仙纪念医院 口腔颌面外科,广东 广州 510120
  • 收稿日期:2014-08-25 修回日期:2014-11-05 出版日期:2015-10-20 发布日期:2015-11-03
  • 作者简介:黄子贤(1991-),男,在读硕士研究生,E-mail: zeahuang@hotmail.com

Four genetic syndromes associated with arteriovenous malformations: an overview

HUANG Zi-xian, HUANG Zhi-quan   

  1. Department of Oral and Maxillofacial Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-Sen University. Guangzhou 510120, Guangdong Province, China
  • Received:2014-08-25 Revised:2014-11-05 Online:2015-10-20 Published:2015-11-03

摘要: 动静脉畸形(arteriovenous malformations, AVMs)为脉管畸形中最危险的一型,常为单发,也可作为某些遗传性综合征的表现之一,见于全身各个部位。本文对4种与动静脉畸形相关的遗传性综合征:遗传性出血性毛细血管扩张症、毛细血管畸形-动静脉畸形综合征、Parkes-Weber综合征及Cobb综合征的临床表现、发病机制、诊断标准和治疗方法作一综述。

关键词: 动静脉畸形, 遗传性出血性毛细血管扩张症, 毛细血管畸形-动静脉畸形综合征, Parkes-Weber综合征, Cobb综合征

Abstract: Arteriovenous malformations (AVMs), are the most dangerous type of vascular malformations, which may occurred as one of the performance of certain genetic syndromes, found in various parts of the body. In this review, we focused on arteriovenous malformation related with genetic syndromes and their clinical manifestation, pathogenesis, diagnosis and therapeutic strategies were discussed, including hereditary hemorrhagictelangiectasia, capillary malformation-arteriovenous malformation, Parkes-Weber syndrome and Cobb syndrome.

Key words: Arteriovenous malformation, Hereditary hemorrhagictelangiectasia, Capillary malformation-arteriovenous malformation, Parkes-Weber syndrome, Cobb syndrome