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Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes?

Abstract
The urofacial syndrome (Ochoa syndrome) is considered to represent a subgroup of the non-neurogenic bladder dysfunction, characterized by non-neuropathic bladder-sphincter dysfunction, along with a characteristic inversion of the facial expression with laughing. Recent research suggests that it is probably a genetic inherited disease transmitted in an autosomal recessive fashion and might represent a distinct entity. We report a case of this syndrome in a 14-year-old boy who presented with left pyelonephritis, hydronephrosis, and bladder dilation.
AuthorsK Stamatiou, S Tyritzis, C Karakos, A Skolarikos
JournalUrology (Urology) Vol. 78 Issue 4 Pg. 911-3 (Oct 2011) ISSN: 1527-9995 [Electronic] United States
PMID21492912 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2011 Elsevier Inc. All rights reserved.
Topics
  • Abnormalities, Multiple (genetics)
  • Adolescent
  • Diagnosis, Differential
  • Facial Expression
  • Facies
  • Humans
  • Hydronephrosis (diagnosis)
  • Male
  • Pyelonephritis (diagnosis)
  • Urinary Bladder (physiopathology)
  • Urinary Bladder, Neurogenic (diagnosis, pathology)
  • Urologic Diseases (diagnosis, pathology)
  • Urology (methods)

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