Waardenburg Syndrome: A Report of a Rare Case

TL;DR

This paper reports a rare case of Waardenburg Syndrome in a young child, highlighting its distinctive features and the need for early diagnosis.

Contribution

The novelty lies in presenting a specific pediatric case with clear clinical features of WS Type I, emphasizing early diagnosis and genetic counseling.

Findings

The case exhibited classic signs of WS Type I, including blue iris, white forelock, dystopia canthorum, and hypopigmented skin.

Early recognition of WS is crucial for timely management and genetic counseling in pediatric patients with hearing impairment and pigmentation anomalies.

Abstract

Waardenburg syndrome (WS) is a rare autosomal genetic disorder characterized by oculocutaneous pigmentation defects, congenital deafness, dystopia canthorum, and a broad nasal root. It exhibits both genetic and clinical heterogeneity. This report presents a case of a 17-month-old male child who was brought to the Outpatient Department with complaints of hearing impairment and speech delay. Clinical examination revealed classic signs of WS, including iris pigmentary abnormality (brilliant blue iris), hair hypopigmentation (white forelock), dystopia canthorum, a broad nasal root, and a hypopigmented patch on the left arm. Based on the clinical features, the case was classified as WS Type I. This case underscores the importance of early recognition and diagnosis of WS for timely management and genetic counseling, particularly in pediatric patients with hearing impairment and distinctive pigmentation anomalies.

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