Waardenburgh Syndrome: A Case Report with Clinical and Audiological Correlation

Authors

  • Avinash Kumar Associate Professor, Department of Otorhinolaryngology - Head and Neck Surgery, Saraswathi Institute of Medical Sciences (SIMS), Anwarpur, Hapur, Uttar Pradesh, India,
  • Garima Sinha Assistant Professor, Department of Anaesthesia and Critical Care, Government Institute of Medical Sciences (GIMS), Greater Noida, Uttar Pradesh, India
  • Prashant Tripathi Postgraduate Student, Department of Otorhinolaryngology - Head and Neck Surgery, Saraswathi Institute of Medical Sciences (SIMS), Anwarpur, Hapur, Uttar Pradesh, India
  • Nausheen Ansari Postgraduate Student, Department of Otorhinolaryngology, Head and Neck Surgery, Saraswathi Institute of Medical Sciences (SIMS), Anwarpur, Hapur, Uttar Pradesh, India
  • Pushkar Paediatric Consultant, Department of Paediatrics, Nanhi Muskan children Hospital, Prayagraj, Uttar Pradesh, India
  • Mansi Sharma Assistant Professor, Dept. of Otorhinolaryngology - Head and Neck Surgery, Saraswathi Institute of Medical Sciences (SIMS), Anwarpur, Hapur, U.P. Email: mansi98111@gmail.com Corresponding author: Garima Sinha

DOI:

https://doi.org/10.67440/ahj.v21i3s.1328

Keywords:

Waardenburg syndrome, Dystopia canthorum, Hypopigmentation, Sensorineural hearing loss, Genetic disorder, Neural crest.

Abstract

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and pigmentary abnormalities involving the skin, hair, and eyes. First described in 1951, it encompasses a spectrum of phenotypic expressions linked to defects in neural crest cell development. This publication presents a case of a 7-year-old girl exhibiting classic clinical features including hypopigmented patches, dystopia canthorum, and congenital sensorineural hearing loss. The report highlights the importance of early diagnosis through clinical recognition and genetic understanding. A brief review of the literature is included, focusing on the classification, global distribution, and genetic basis of the syndrome. Early identification and multidisciplinary management are crucial for improving quality of life and preventing complications associated with hearing impairment..

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Published

2026-06-10

How to Cite

Kumar, A., Sinha, G., Tripathi, P., Ansari, N., Pushkar, & Sharma, M. (2026). Waardenburgh Syndrome: A Case Report with Clinical and Audiological Correlation. Adolescência E Saúde, 21(3s), 831–835. https://doi.org/10.67440/ahj.v21i3s.1328

Issue

Vol. 21 No. 3s (2026): Vol. 21 No. 3s (2026)

Section

Original Articles

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.