Prevalence and Recurrence of Lower-Limb Deformities in Jarcho-Levin Syndrome: A Single-Center Retrospective Cohort...

Background: Lower-limb deformities in Jarcho-Levin syndrome (JLS) have not been systematically characterized. This study aimed to determine the prevalence and recurrence of lower-limb deformities in patients with JLS and to evaluate factors associated with recurrence and functional outcomes. Methods: A retrospective cohort study was performed at a single center between 2013 and 2024. Patients with a clinical and radiographic diagnosis of JLS and a minimum 2-year follow-up were included. Demographic, neurologic, radiographic, treatment, recurrence, and functional outcome data were reviewed. Recurrence was defined as return of a treated deformity requiring repeat casting, bracing modification, additional surgery, or other intervention. Results: A total of 114 patients were included. Mean follow-up was 6.2 ± 4.3 years. Lower-limb deformity was identified in 94 patients (82.5%); 73 had bilateral involvement. Foot deformity occurred in 76 patients, most commonly pes equinovarus (64 patients), hip dislocation was identified in 79 patients, and hip flexion contracture was identified in 75 patients. Among treated deformities, recurrence was most common after treatment of pes equinovarus, occurring in 29 of 61 patients. Recurrence occurred in 12 of 35 treated hip dislocations, 17 of 49 hip flexion contractures, 9 of 28 knee flexion contractures, and 3 of 8 congenital patellar dislocations. Patients with more frequent recurrence had bilateral involvement, neural tube defects, and multiple deformities, and lower PODCI mobility and global functioning scores. Conclusions: Lower-limb deformities are common, frequently bilateral, and often recurrent in patients with JLS. These findings suggest that careful lower-limb evaluation and long-term follow-up after treatment are important in this population.