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Related Experiment Videos

[Kniest syndrome. An audiological study]

R Barona1, M Armengot, L Garín

  • 1Hospital General Universitario, Servicio de O.R.L., Facultad de Medicina, Valencia.

Anales Otorrinolaringologicos Ibero-Americanos
|January 1, 1993
PubMed
Summary
This summary is machine-generated.

This rare genetic syndrome causes disproportionate dwarfism and joint stiffness. Hearing loss, affecting 50% of patients, can be conductive or sensorineural.

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Area of Science:

  • Genetics
  • Otolaryngology
  • Pediatrics

Background:

  • A rare genetic syndrome presents with disproportionate dwarfism, kyphoscoliosis, joint stiffness, and facial dysmorphia.
  • Hearing impairment, encompassing both conductive and sensorineural types, affects approximately 50% of individuals with this condition.
  • The autosomal dominant disorder is typically diagnosed at birth due to characteristic physical features like short limbs and joint enlargement.