European Journal of Pediatrics

, Volume 169, Issue 4, pp 431–435

Ochoa syndrome: a spectrum of urofacial syndrome

  • Ozgu Aydogdu
  • Berk Burgu
  • Fuat Demirel
  • Tarkan Soygur
  • Zeynep Birsin Ozcakar
  • Fatos Yalcınkaya
  • Serdar Tekgul
Original Paper

DOI: 10.1007/s00431-009-1042-9

Cite this article as:
Aydogdu, O., Burgu, B., Demirel, F. et al. Eur J Pediatr (2010) 169: 431. doi:10.1007/s00431-009-1042-9

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).

Keywords

Urofacial syndromeOchoa syndromeNeurogenic bladderFacial expression

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Ozgu Aydogdu
    • 1
    • 5
  • Berk Burgu
    • 1
  • Fuat Demirel
    • 2
  • Tarkan Soygur
    • 1
  • Zeynep Birsin Ozcakar
    • 3
  • Fatos Yalcınkaya
    • 3
  • Serdar Tekgul
    • 4
  1. 1.Division of Pediatric Urology, School of MedicineAnkara UniversityAnkaraTurkey
  2. 2.Department of UrologyYıldırım Beyazıt HospitalAnkaraTurkey
  3. 3.Division of Pediatric Nephrology, School of MedicineAnkara UniversityAnkaraTurkey
  4. 4.Division of Pediatric Urology, School of MedicineHacettepe UniversityAnkaraTurkey
  5. 5.Adnan Saygun CaddesiAnkaraTurkey