Original Paper

European Journal of Pediatrics

, Volume 169, Issue 4, pp 431-435

Ochoa syndrome: a spectrum of urofacial syndrome

  • Ozgu AydogduAffiliated withDivision of Pediatric Urology, School of Medicine, Ankara UniversityAdnan Saygun Caddesi Email author 
  • , Berk BurguAffiliated withDivision of Pediatric Urology, School of Medicine, Ankara University
  • , Fuat DemirelAffiliated withDepartment of Urology, Yıldırım Beyazıt Hospital
  • , Tarkan SoygurAffiliated withDivision of Pediatric Urology, School of Medicine, Ankara University
  • , Zeynep Birsin OzcakarAffiliated withDivision of Pediatric Nephrology, School of Medicine, Ankara University
  • , Fatos YalcınkayaAffiliated withDivision of Pediatric Nephrology, School of Medicine, Ankara University
  • , Serdar TekgulAffiliated withDivision of Pediatric Urology, School of Medicine, Hacettepe University

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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 syndrome Ochoa syndrome Neurogenic bladder Facial expression