Wildervanck syndrome: clinical case report

ARCHIVOS ARGENTINOS DE PEDIATRIA(2023)

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摘要
Wildervanck syndrome (also known as cervico-oculo-acousticdysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.
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关键词
cervico-oculo-acoustic syndrome,Wildervanck syndrome,Klippel-Feil syndrome,hearing loss
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