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Case Reports
. 2010 Apr;169(4):431-5.
doi: 10.1007/s00431-009-1042-9. Epub 2009 Aug 11.

Ochoa syndrome: a spectrum of urofacial syndrome

Ozgu Aydogdu  1 , Berk Burgu, Fuat Demirel, Tarkan Soygur, Zeynep Birsin Ozcakar, Fatos Yalcinkaya, Serdar Tekgul
Affiliations
Case Reports

Ochoa syndrome: a spectrum of urofacial syndrome

Ozgu Aydogdu et al. Eur J Pediatr. 2010 Apr.

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).

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