Cai Ren, Han Yifeng, Ye Mao, Yang Xitao, Gu Hao, Yue Xiaojie, Zhao Xiong, Fan Xindong, Sun Dachuan, Zhu Jiaxue
Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
Department of Orthopedics, Fengcheng Hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University, Shanghai, PR China.
Hereditas. 2025 Jun 7;162(1):99. doi: 10.1186/s41065-025-00474-9.
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.
毛细血管畸形（CMs）是由扩张的毛细血管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病症，会导致功能和姿势方面的问题。伴有腿长差异的毛细血管畸形（CM-LLD）正式揭示了诸如克-特综合征和弥漫性毛细血管畸形过度生长等综合征。在本研究中，我们报告了一例经放射学和遗传学研究诊断为帕克-韦伯综合征的伴有腿长差异的综合征性毛细血管畸形。本研究着重于了解CM-LLD之间的关联，确保及时进行基因检测、干预，优化功能结果，并改善帕克-韦伯综合征患者的生活质量。
