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Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.
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.
A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.
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 PDFIdentification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.
Eur 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.
Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report.
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.
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.
High-tech care in the Amish: Chronic respiratory failure in Ellis-van Creveld syndrome.
Pediatr Pulmonol
November 2024
Nemours Children's Hospital, Wilmington, Delaware, USA.
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