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Published on: September 20, 2018
Wildervanck syndrome: clinical case report
María Del Carmen Chima-Galán1, Norma A Sánchez-Beltrán1,2, Liliana García-Ortiz3
1Department of Genetics, Centro Médico Nacional 20 de Noviembre, Institute for Security and Social Services for State Workers, Mexico City, Mexico.
Abstract:
Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) 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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