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://dx.doi.org/10.7759/cureus.33863 | DOI Listing |
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, The Lifeline Multi Speciality Hospital, Kerala, India.
Introduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes.
Case Report: We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking.
Indian J Plast Surg
December 2024
Department of Plastic, Hand and Reconstructive Microsurgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
Postaxial polydactyly (PAP) in the form of rudimentary soft tissue masses is quite common. Management involves ligation or surgical excision. Rarely do literature discussions cover complex variants in which the extra finger is fully developed.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
December 2024
Reproductive Medicine Center, Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, China; Hubei Clinical Research Center for Reproductive Medicine, Shiyan, Hubei, China; Shiyan Key Laboratory of Reproduction and Genetics (Renmin Hospital, Hubei University of Medicine), Shiyan, Hubei, China; Biomedical Engineering College, Hubei University of Medicine, Shiyan, Hubei, China; Hubei Key Laboratory of Embryonic Stem Cell Research, Shiyan, Hubei, China. Electronic address:
Objective: This study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities.
Methods: A fetus with multiple malformations detected during mid-pregnancy was terminated. Trio whole exome sequencing (Trio-WES) was performed on the fetal tissue.
J Surg Case Rep
October 2024
Department of Orthopedic Surgery, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0374, Japan.
Pediatr Pulmonol
November 2024
Nemours Children's Hospital, Wilmington, Delaware, USA.
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