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我们如何处理复杂的血管异常和过度生长综合征。

How we approach complex vascular anomalies and overgrowth syndromes.

机构信息

Division of Pediatric Hematology/Oncology, Children's Cancer and Blood Disorders Center, Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.

Division of Vascular & Interventional Radiology, University of North Carolina, Chapel Hill, North Carolina, USA.

出版信息

Pediatr Blood Cancer. 2022 Aug;69 Suppl 3:e29273. doi: 10.1002/pbc.29273.

Abstract

Vascular anomalies, both vascular tumors and vascular malformations, can occur in isolation or as part of syndromes including those which feature phenotypic overgrowth. To update what is known about vascular anomalies associated with overgrowth, PubMed was searched for "overgrowth syndromes and vascular anomalies or malformations." PubMed, OMIM, and the Rare Disease Database also were searched for specific diagnoses. We review individual overgrowth syndromes, provide a case-based approach to the clinical, radiographic, pathologic, and genetic basis for diagnosis, to complications of both the vascular anomalies and the overgrowth, and emphasize the need for a multidisciplinary approach to care.

摘要

血管异常,包括血管肿瘤和血管畸形,既可以单独发生,也可以作为综合征的一部分出现,包括表现出表型过度生长的综合征。为了更新与过度生长相关的血管异常的知识,我们在 PubMed 上搜索了“过度生长综合征和血管异常或畸形”。我们还在 PubMed、OMIM 和罕见病数据库中搜索了特定的诊断。我们回顾了个体的过度生长综合征,提供了基于病例的方法来了解诊断的临床、放射学、病理学和遗传学基础,以及血管异常和过度生长的并发症,并强调了需要多学科方法来进行治疗。

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