title: Nephronophthisis associated with Ellis-van Creveld syndrome.
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.
authors.affiliation: Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
authors.forename: A
authors.initials: A
authors.lastname: Moudgil
authors.forename: A
authors.initials: A
authors.lastname: Bagga
authors.forename: E S
authors.initials: ES
authors.lastname: Kamil
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: A H
authors.initials: AH
authors.lastname: Cohen
authors.forename: S C
authors.initials: SC
authors.lastname: Jordan
mesh_terms: D004613:Ellis-Van Creveld Syndrome / Q000150:complications* / Q000473:pathology / Q000601:surgery; D006801:Humans; D006977:Hypertension, Renal / Q000150:complications / Q000473:pathology; D007223:Infant; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000150:complications / Q000473:pathology; D016030:Kidney Transplantation; D007684:Kidney Tubules / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron