Ochoa syndrome: a spectrum of urofacial syndrome

Aydogdu O., BURGU B., Demirel F., Soygur T., ÖZÇAKAR Z. B., Yalcinkaya F., ...More

EUROPEAN JOURNAL OF PEDIATRICS, vol.169, no.4, pp.431-435, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 169 Issue: 4
  • Publication Date: 2010
  • Doi Number: 10.1007/s00431-009-1042-9
  • Journal Name: EUROPEAN JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.431-435
  • Hacettepe University Affiliated: Yes

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).