Published in:
01-04-2010 | Original Paper
Ochoa syndrome: a spectrum of urofacial syndrome
Authors:
Ozgu Aydogdu, Berk Burgu, Fuat Demirel, Tarkan Soygur, Zeynep Birsin Ozcakar, Fatos Yalcınkaya, Serdar Tekgul
Published in:
European Journal of Pediatrics
|
Issue 4/2010
Login to get access
Abstract
The urofacial syndrome, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a median follow up of 32 months (range, 2–44 months).