Ellis-van Creveld (EVC) syndrome is a rare inherited condition with inheritance, which is autosomal recessive in nature and is also described as skeletal dysplasia (chondroectodermal). The patients present with a grave genu valgum deformity which is a major challenge in orthopedics. The current case report presents a young girl of the juvenile age group who came with deformity over the bilateral lower limb with difficulty in walking and bilateral upper limb polydactyly. The patient underwent relevant investigations and examinations which were suggestive of bilateral genu valgum deformity. Since the deformity was significant, a corrective osteotomy with soft tissue release was planned followed by rehabilitative physiotherapy. Considering the extensive nature of the surgery, a staged procedure was planned. The patient on follow-up presented with a good range of motion and improved gait. Various treatment modalities have been described for the correction of the deformity but few of them are done in patients with EVC syndrome and they state varying results and high incidences of relapse. The present study focuses on corrective osteotomy with soft tissue release as a treatment modality and describes the outcome associated with the modality. Thus, stating that with proper planning and postoperative rehabilitation the patient can achieve a good functional outcome.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933149PMC
http://dx.doi.org/10.7759/cureus.33863DOI Listing

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Article Synopsis
  • Ellis-van Creveld syndrome (EVC) is a rare condition characterized by knee deformities, particularly affecting younger patients, with limited adult treatment documentation.
  • A 23-year-old woman presented with bilateral knee pain and abnormal walking due to valgus knee deformities, which were confirmed through imaging.
  • The surgical approach included osteotomies of the femurs and tibias, achieving good correction; despite mild residual deformity, the patient maintained stable and painless walking for 10 years after surgery.
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