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

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

PMC · DOI: 10.1186/s41065-025-00474-9 · Hereditas · 2025-06-07

## TL;DR

This paper discusses a rare syndrome involving capillary malformations and leg length discrepancy, focusing on diagnosis and treatment approaches to improve patient outcomes.

## Contribution

The study presents a case of Parkes-Weber syndrome and highlights the importance of genetic testing and early intervention.

## Key findings

- Parkes-Weber syndrome was diagnosed using radiology and genetic studies.
- Early intervention through embolization, chemotherapy, and the Ilizarov technique improved functional outcomes.
- Timely genetic testing is crucial for managing CM-LLD syndromes.

## Abstract

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.

## Linked entities

- **Diseases:** Parkes-Weber syndrome (MONDO:0700325), Klippel-Trenaunay syndrome (MONDO:0007864)

## Full-text entities

- **Diseases:** Parkes-Weber syndrome (MESH:D013341), Parkers-Weber Syndrome (MESH:C566105), vascular anomalies (MESH:D020785), CMs (OMIM:163000), CM-LLD (MESH:D007870), Klippel-Trenaunay syndrome (MESH:D007715)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12145613/full.md

## References

2 references — full list in the complete paper: https://tomesphere.com/paper/PMC12145613/full.md

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Source: https://tomesphere.com/paper/PMC12145613