2008 Volume 21 Issue 2 Pages 172-175
Ellis-van Creveld syndrome is a rare disorder characterized by short ribs, polydactyly and growth retardation. We report here a case of Ellis-van Creveld syndrome with nephronophthisis. The patient was an 11-year-old girl, who was pointed out Ellis-van Creveld syndrome at birth. She developed proteinuria at 10-year-old and gradually progressive renal failure, requiring PD at 12-year-old. Histopathological findings in the renal biopsy specimen were compatible with nephronophthisis. To our knowledge, there is a single report in the literature regarding an association between nephronophthisis and Ellis-van Creveld syndrome.
