Pediatric Nephrology

, Volume 19, Issue 1, pp 6–12

Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

Review

Abstract

During the last 40 years over 100 patients have been reported with a dysfunctional lower urinary tract associated with a peculiar distortion of the facial expression. This most unusual disorder was initially considered a local observation. Time, however, has proven otherwise, since patients with this syndrome have now been reported from various countries throughout the world. This association of lower urinary tract and bowel dysfunction with an abnormal facial expression was named the urofacial (Ochoa) syndrome. Genetic studies have demonstrated that this condition is inherited as an autosomal recessive trait, and a potential gene has been mapped to chromosome 10q23-q24. There is also enough evidence to suggest that patients with this syndrome as well as those with subclinical neurological bladder, occult neuropathic bladder, non-neurogenic neurogenic bladder or Hinman syndrome, dysfunctional voiding, or dysfunctional elimination may be affected by the same congenital disorder of neurological origin.

Keywords

Bladder dysfunction Voiding dysfunction Elimination dysfunction Facial expression Constipation Congenital diseases Non-neurogenic neurogenic bladder 

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Copyright information

© IPNA 2003

Authors and Affiliations

  1. 1.Department of Pediatric and Urological SurgeryUniversity of AntioquiaMedellinColombia
  2. 2.Department of PediatricsLouisiana State University Health Sciences CenterNew OrleansUSA

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