伴腿长差异的综合征性毛细血管畸形：栓塞、化疗和Ilizarov技术治疗Parkes-Weber综合征。

IF 2.5 3区生物学

Hereditas Pub Date : 2025-06-07 DOI:10.1186/s41065-025-00474-9

Ren Cai, Yifeng Han, Mao Ye, Xitao Yang, Hao Gu, Xiaojie Yue, Xiong Zhao, Xindong Fan, Dachuan Sun, Jiaxue Zhu

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引用次数: 0

摘要

毛细血管畸形（CMs）是由毛细血管扩张引起的先天性低流量血管异常。腿长差异（LLD）是一种以下肢长度不等为特征的疾病，导致功能和姿势方面的挑战。毛细畸形伴腿长差异（CM-LLD）正式显示Klippel-Trenaunay综合征和弥漫性毛细畸形过度生长等综合征。在这项研究中，我们报告一个综合征毛细血管畸形与腿长差异诊断为帕克斯-韦伯综合征的放射学和遗传学研究。本研究的重点是了解CM-LLD之间的关系，确保及时的基因检测，干预，优化功能结局，改善帕克-韦伯综合征患者的生活质量。

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Syndromic capillary malformation with leg length discrepancy: Parkes-Weber syndrome treated by embolization, chemotherapy and Ilizarov technique.

Capillary malformations (CMs) are congenital low-flow vascular anomalies caused by dilated capillaries. Leg length discrepancy (LLD) is the condition characterized by unequal lower limb lengths, leading to functional and postural challenges. Capillary malformation with leg length discrepancy (CM-LLD) formally reveals syndrome such as Klippel-Trenaunay syndrome and Diffuse Capillary Malformation Overgrowth. In this study, we report a syndromic capillary malformation with leg length discrepancy diagnosed as Parkers-Weber Syndrome by radiology and genetic study. This study emphases on understanding the association between CM-LLD, ensuring timely genetic testing, intervention, optimizing functional outcomes, and improving quality of life for individuals with Parkes-Weber syndrome.

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来源期刊

Hereditas Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.80

自引率

3.70%

发文量

期刊介绍： For almost a century, Hereditas has published original cutting-edge research and reviews. As the Official journal of the Mendelian Society of Lund, the journal welcomes research from across all areas of genetics and genomics. Topics of interest include human and medical genetics, animal and plant genetics, microbial genetics, agriculture and bioinformatics.