NEPHRONOPHTHISIS ASSOCIATED WITH ELLIS-VAN-CREVELD-SYNDROME

Ellis-van Creveld (EvC) and Jeune's asphyxiating thoracic dystrophy (A TD) are related disorders characterized by narrow thoracic cage and sh ort-limbed dwarfism. Some patients have overlapping features of both A TD 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 diag nosed with EvC syndrome at birth. He developed hypertension at 5 month s of age and gradually progressive renal failure, requiring renal tran splantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephr onophthisis in a patient with EvC syndrome has not been reported previ ously. This association further supports the hypothesis that ATD and E VC syndromes are related and represent a spectrum of disorders.