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A case report of a rare cardiac anomaly associated with Ellis-van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle.
Eur Heart J Case Rep
January 2025
Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka 594-1101, Japan.
Background: A partial atrioventricular septal defect (AVSD) with a hypoplastic left ventricle and common atrium is a rare combination of cardiac anomalies that can be associated with Ellis-van Creveld (EVC) syndrome.
Case Summary: A female neonate with EVC syndrome was diagnosed with an unbalanced AVSD and hypoplastic left ventricle. Pulmonary artery banding and ductus ligation were performed at 23 days after birth.
A Case of Ellis-van Creveld Syndrome.
Indian Dermatol Online J
August 2024
Department of Dermatology, Dr. D.Y. Patil Medical College and Hospital, Pimpri, Pune, Maharashtra, India.
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.
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