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.
CITATION STYLE
Moudgil, A., Bagga, A., Kamil, E. S., Rimoin, D. L., Lachman, R. S., Cohen, A. H., & Jordan, S. C. (1998). Nephronophthisis associated with Ellis-van Creveld syndrome. Pediatric Nephrology, 12(1), 20–22. https://doi.org/10.1007/s004670050395
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