Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

Abstract excerpt

Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities, accounting for 2-5% of congenital deafness. While molecular testing is the diagnostic gold standard, clinical recognition remains crucial in low-resource or conflict-affected environments where specialized services are unavailable. We report a Syrian male in his early 20s who...

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