Ochoa syndrome: a spectrum of urofacial syndrome

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

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).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Antibiotic Prophylaxis / methods
  • Catheterization / methods
  • Child
  • Cholinergic Antagonists / therapeutic use
  • Combined Modality Therapy
  • Face / abnormalities*
  • Facial Expression
  • Follow-Up Studies
  • Humans
  • Male
  • Syndrome
  • Urinary Bladder, Neurogenic / complications*
  • Urinary Bladder, Neurogenic / therapy
  • Urinary Incontinence / complications*
  • Urinary Incontinence / therapy
  • Urinary Tract Infections / complications*
  • Urinary Tract Infections / therapy
  • Vesico-Ureteral Reflux / complications*
  • Vesico-Ureteral Reflux / therapy

Substances

  • Cholinergic Antagonists