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Goldenhar syndrome.

Shahanaz Parveen ShaikThirunavukkarasu Arun Babu
Published in: BMJ case reports (2024)
Goldenhar syndrome, also recognised as oculo-auriculo-vertebral spectrum, is a very rare condition distinguished by a diverse array of clinical abnormalities affecting the ocular, auditory, vertebral and various organ systems. The pathophysiology of this condition is not fully elucidated due to its inherent genetic variability and rarity. In this report, we present a case of Goldenhar syndrome in a toddler boy, aiming to enhance the existing body of literature on this condition.
Keyphrases
  • case report
  • systematic review
  • bone mineral density
  • high resolution
  • gene expression
  • high throughput
  • dna methylation
  • body composition
  • single cell