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Goldenhar syndrome
  1. Shahanaz Parveen Shaik1 and
  2. Thirunavukkarasu Arun Babu2
  1. 1 Pediatrics, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India
  2. 2 Department of Pediatrics, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India
  1. Correspondence to Dr Thirunavukkarasu Arun Babu, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India; babuarun.t{at}gmail.com

Abstract

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.

  • Ear, nose and throat
  • Eye
  • Genetics
  • Paediatrics

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Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: SPS and TAB. The following author gave final approval of the manuscript: TAB.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.