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

Year: 2025

Type: article

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.

Source: Hereditas

DOI: 10.1186/s41065-025-00474-9