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More than meets the smile: facial muscle expression in children with Ochoa syndrome.

Abstract
The Ochoa syndrome is the association of a non-neurogenic neurogenic bladder with abnormal facial muscle expression. Patients are at risk for renal failure due to obstructive uropathy. We report a family of three siblings, with an emphasis on the abnormalities in facial expression. Careful examination shows an unusual co-contraction of the orbicularis oculi and orbicularis oris muscles only when full facial expressions are exhibited, across a range of emotional or voluntary situations. This suggests a peripheral disorder in facial muscle control. Two thirds of patients have anal sphincter abnormalities. Aberrant organisation of the facial motor and urinary-anal sphincter nuclei may explain these symptoms.
AuthorsI Ganesan, T Thomas
JournalThe Medical journal of Malaysia (Med J Malaysia) Vol. 66 Issue 5 Pg. 507-9 (Dec 2011) ISSN: 0300-5283 [Print] Malaysia
PMID22390114 (Publication Type: Journal Article)
Topics
  • Adolescent
  • Child
  • Facial Expression
  • Facial Muscles (physiopathology)
  • Female
  • Humans
  • Male
  • Pedigree
  • Smiling (physiology)
  • Syndrome
  • Urinary Bladder, Neurogenic (physiopathology)

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