Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 191, Issue 2, Pages 559-563Publisher
WILEY
DOI: 10.1002/ajmg.a.63025
Keywords
Botulinum toxin; facial expression; Ochoa Syndrome
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The Urofacial or Ochoa Syndrome is a rare congenital disorder that affects both the urinary system and facial expression. This study reports the successful use of Botulinum toxin to address the impaired facial mimicry in a patient with this syndrome.
The Urofacial or Ochoa Syndrome is a very rare congenital disorder that includes vesical bladder dysfunction and a peculiar inverse facial expression, which brings patients to express a sad-crying face while they intend to laugh. Up-to-date treatments have addressed only the urological side of this disease. However, also the impaired facial mimicry has a strong impact on patients' quality of life. We treated a young patient with Botulinum toxin to address this impairment and obtained pleasing results, including a harmonic smile and a very satisfied patient. To the best of our knowledge, this is the first time that the use of Botulinum toxin is reported in literature to address the facial expression component of this disease.
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