Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report

Ellis-van Creveld syndrome (EVC) is a rare disorder with marked valgus knee deformity, and orthopedic surgeons may experience challenges with lower limb treatment. Most previous reports have focused on EVC in childhood and few on its treatment in adulthood. Our patient was a 23-year-old woman with bilateral knee pain and gait abnormalities, with no history of orthopedic treatment. Valgus knee deformities with anterolateral depression of the lateral tibial plateaus and external rotation deformities of the lower legs were observed on radiography. We performed extra-articular osteotomy of the femurs and tibias and soft tissue release. Although the correction of each femur and tibia was good, mild valgus deformity of the lower limbs remained. This may be because the depression of the lateral tibial plateau was not repaired, and no postoperative remodeling was performed. However, 10 years post-surgery, no recurrence of the deformity was observed and walking was stable without pain.

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Publication Details

Journal
Journal of Surgical Case Reports
Published
2024-10-01
DOI
https://doi.org/10.1093/jscr/rjae648
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
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article

Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report

Jun Aikawa, Yukie Metoki, Dai Iwase, Manabu Mukai et al.
Journal of Surgical Case Reports
Genetic and Kidney Cyst Diseases
article

Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report

Jun Aikawa, Yukie Metoki, Dai Iwase, Manabu Mukai, Ryo Ota, Gen Inoue, Kensuke Fukushima, Masashi Takaso
article en

Abstract

Ellis-van Creveld syndrome (EVC) is a rare disorder with marked valgus knee deformity, and orthopedic surgeons may experience challenges with lower limb treatment. Most previous reports have focused on EVC in childhood and few on its treatment in adulthood. Our patient was a 23-year-old woman with bilateral knee pain and gait abnormalities, with no history of orthopedic treatment. Valgus knee deformities with anterolateral depression of the lateral tibial plateaus and external rotation deformities of the lower legs were observed on radiography. We performed extra-articular osteotomy of the femurs and tibias and soft tissue release. Although the correction of each femur and tibia was good, mild valgus deformity of the lower limbs remained. This may be because the depression of the lateral tibial plateau was not repaired, and no postoperative remodeling was performed. However, 10 years post-surgery, no recurrence of the deformity was observed and walking was stable without pain.

Journal of Surgical Case ReportsVol. 2024(10)
Kitasato University (JP)
Good health and well-being
Openalex Percentile: Top 80%
Genetic and Kidney Cyst Diseases
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Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report — Jun Aikawa, Yukie Metoki, et al. · Journal of Surgical Case Reports (2024) | TGRS Research Map | TGRS