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Related Experiment Videos

Wildervanck syndrome

A Kumar1, D Chaudhary, S K Gupta

  • 1Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

Australasian Radiology
|May 1, 1996
PubMed
Summary

This case report details Wildervanck syndrome, a rare condition involving Klippel-Feil anomaly, hearing loss, and eye movement issues. Associated anomalies also presented, highlighting the syndrome

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Area of Science:

  • Genetics and Rare Diseases
  • Neurology
  • Ophthalmology

Background:

  • Wildervanck (cervico-oculo-acoustic) syndrome is a rare congenital disorder.
  • It is characterized by a combination of skeletal, auditory, and neurological abnormalities.

Observation:

  • This report describes a patient with Wildervanck syndrome.
  • The patient presented with Klippel-Feil anomaly, congenital sensorineural deafness, and bilateral sixth nerve palsy.

Findings:

  • Associated anomalies in this case included short stature, microcephaly, mental retardation, and cleft palate.
  • The constellation of findings underscores the multi-systemic nature of the syndrome.

Implications:

  • This case contributes to the understanding of Wildervanck syndrome's phenotypic variability.
  • Early recognition and comprehensive management are crucial for affected individuals.