Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterised by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. It is extremely rare for EVC syndrome to occur in one of a pair of newborn twins. Review of the existing literature revealed that only one such case has been reported so far.
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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.
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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 PDFCardiovascular Magnetic Resonance Reveals Cardiac Inflammation and Fibrosis in Symptomatic Patients with Post-COVID-19 Syndrome: Findings from the INSPIRE-CMR Multicenter Study.
J Clin Med
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University Research Institute of Maternal and Child Health and Precision Medicine and UNESCO Chair in Adolescent Health Care, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
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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.
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Objective: This study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities.
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Ther Adv Ophthalmol
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Background: Charles Bonnet syndrome (CBS) is a condition in which people with vision loss experience complex visual hallucinations. These complex visual hallucinations may be caused by increased excitability in the visual cortex that are present in some people with vision loss but not others.
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