Nephronophthisis associated with Ellis-van Creveld syndrome.
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.
Moudgil
A
A
Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
Bagga
A
A
Kamil
E S
ES
Rimoin
D L
DL
Lachman
R S
RS
Cohen
A H
AH
Jordan
S C
SC
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