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Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case

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...

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Autores principales: Harkare, Vismay V, Mankar, Sushil, Faizan, Mohammed, Nemade, Amit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933149/
https://www.ncbi.nlm.nih.gov/pubmed/36819414
http://dx.doi.org/10.7759/cureus.33863
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author Harkare, Vismay V
Mankar, Sushil
Faizan, Mohammed
Nemade, Amit
author_facet Harkare, Vismay V
Mankar, Sushil
Faizan, Mohammed
Nemade, Amit
author_sort Harkare, Vismay V
collection PubMed
description 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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spelling pubmed-99331492023-02-17 Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case Harkare, Vismay V Mankar, Sushil Faizan, Mohammed Nemade, Amit Cureus Orthopedics 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. Cureus 2023-01-17 /pmc/articles/PMC9933149/ /pubmed/36819414 http://dx.doi.org/10.7759/cureus.33863 Text en Copyright © 2023, Harkare et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Orthopedics
Harkare, Vismay V
Mankar, Sushil
Faizan, Mohammed
Nemade, Amit
Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
title Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
title_full Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
title_fullStr Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
title_full_unstemmed Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
title_short Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
title_sort surgical outcome of complex knee deformity correction in a girl with ellis-van creveld syndrome: a report of a rare case
topic Orthopedics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933149/
https://www.ncbi.nlm.nih.gov/pubmed/36819414
http://dx.doi.org/10.7759/cureus.33863
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