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Renal Transplant in an Adult with Ellis Van Creveld Syndrome: A Case Report and Literature Review

Author(s): Myftar Barbullushi | Alma Idrizi | Anila Laku | Eriola Likaj | Marsida Kasa | Nestor Thereska

Journal: Macedonian Journal of Medical Sciences
ISSN 1857-5749

Volume: 6;
Issue: 2;
Start page: 182;
Date: 2013;
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Keywords: chondroectodermal dysplasia | chronic renal failure | hemodialysis | postaxial polydactyly | renal transplantation.

Ellis van Creveld syndrome (EVC) is a rare chrondro-ectodermal dysplasia. Renal abnormalities are found in few EVC cases with agenesis, dysplasia, megaureter and nephrocalcinosis. Rarely EVC syndrome is complicated with kidney failure and only one child required renal transplantation. We report a patient who was diagnosed with EVC syndrome at birth. He developed hypertension at age 15 and gradually progressed to chronic kidney disease stage 5 requiring hemodialysis and renal transplantation.
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