Nephronophthisis associated with Ellis-van Creveld syndrome |
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| Authors: | Asha Moudgil Arvind Bagga Elaine S. Kamil David L. Rimoin Ralph S. Lachman Arthur H. Cohen Stanley C. Jordan |
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| Affiliation: | (1) Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA, US;(2) Department of Pathology, Cedars-Sinai Medical Center, Los Angeles, California, USA, US |
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| Abstract: | Ellis-van Creveld (EvC) and Jeune’s asphyxiating thoracic dystrophy (ATD) are related disorders characterized by narrow thoracic cage and short-limbed dwarfism. Some patients have overlapping features of both ATD and EvC, indicating that these syndromes may be a part of a disease spectrum. Nephronophthisis has been occasionally reported in patients with ATD, but not with EvC syndrome. We report a patient who was diagnosed with EvC syndrome at birth. He developed hypertension at 5 months of age and gradually progressive renal failure, requiring renal transplantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephronophthisis in a patient with EvC syndrome has not been reported previously. This association further supports the hypothesis that ATD and EvC syndromes are related and represent a spectrum of disorders. Received February 24, 1997; received in revised form and accepted July 24, 1997 |
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| Keywords: | : Nephronophthisis Ellis-van Creveld syndrome Jeune’ s asphyxiating thoracic dystrophy Chronic renal failure Renal transplantation |
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