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.
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Received February 24, 1997; received in revised form and accepted July 24, 1997
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Moudgil, A., Bagga, A., Kamil, E. et al. Nephronophthisis associated with Ellis-van Creveld syndrome. Pediatr Nephrol 12, 20–22 (1998). https://doi.org/10.1007/s004670050395
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DOI: https://doi.org/10.1007/s004670050395