Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome.

American journal of medical genetics. Part A 2023 Vol.191(2) p. 559-563

Barbon C, Grünherz L, Schweizer R, Lindenblatt N, Giovanoli P

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Abstract

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.

추출된 의학 개체 (NER)

유형영어 표현한국어 / 풀이UMLS CUI출처등장
시술 botulinum toxin 보툴리눔독소 주사 dict 3

MeSH Terms

Quality of Life; Botulinum Toxins; Facial Expression; Urologic Diseases; Syndrome; Humans; Facies

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