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Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory

Shabari Ghosh1, Mainak Dutta2, Diptanshu Mukherjee1

  • 1Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India.

Ear, Nose, & Throat Journal
|December 6, 2024
PubMed

Insights

Auditory pigmentary disorders (APDs) link congenital depigmentation with hearing loss, affecting speech development. Early diagnosis and intervention are crucial for managing these rare genetic syndromes.

Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • Congenital depigmentation can co-occur with congenital sensorineural hearing loss.
  • This association may lead to delayed or absent verbal speech development.
  • Auditory Pigmentary Disorders (APDs) encompass a group of syndromic conditions.

Purpose of the Study:

  • To present the clinical characteristics and diagnostic work-up of three children with APDs.
  • To review the literature on auditory pigmentary disorders.
  • To highlight the importance of recognizing these rare syndromes.

Main Methods:

  • A case series approach was utilized.
  • Literature review was conducted to supplement case findings.
  • Clinical features, audiologic tests, imaging, and genetic testing were evaluated.

Main Results:

  • Three cases of APDs were identified: Waardenburg syndrome type 1, Clouston syndrome, and Waardenburg syndrome type 4 (Waardenburg-Shah syndrome).
  • All affected children presented with hearing loss, delayed speech development, and oculocutaneous depigmentation.
  • Diagnostic challenges and differential diagnoses were discussed.

Conclusions:

  • APDs represent syndromic disorders connecting congenital depigmentation and prelingual hearing loss.
  • Knowledge of these rare conditions is vital for early diagnosis of congenital hearing loss.
  • Timely auditory and speech rehabilitation is essential for affected individuals.

Keywords:
Clouston syndromeWaardenburg syndromeWaardenburg-Shah syndromeauditory pigmentary disorderscongenitalheterochromia iridesoculocutaneous albinismprelingualsensorineural hearing loss

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