Nephronophthisis associated with Ellis-van Creveld syndrome.

  • Moudgil A
  • Bagga A
  • Kamil E
 et al. 
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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.

Author-supplied keywords

  • Ellis-Van Creveld Syndrome/*complications/patholog
  • Humans
  • Hypertension, Renal/complications/pathology
  • Infant
  • Kidney Failure, Chronic/complications/pathology
  • Kidney Transplantation
  • Kidney Tubules/pathology
  • Kidney/pathology
  • Male
  • Microscopy, Electron

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  • A Moudgil

  • A Bagga

  • E S Kamil

  • D L Rimoin

  • R S Lachman

  • A H Cohen

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