Waardenburg sendromu: Olgu sunumu

Amaç: Waardenburg sendromu (WS) konjenital sensörinöral işitme kaybı, poliozis (saçta beyaz perçem), heterokromik iris, hipopigmente maküler lezyonlar, lakrimal punktum ve iç kantusun lateral yer değişimi (distopia kantorum), kaş medialinde çıkıklık ve geniş ve çıkık burun kökü ile karakterize otozomal dominant geçişli nadir bir hastalıktır. Bu yazıda WS tip 2 tanısı konulan bir erkek olgu sunulması amaçlandı. Olgu Sunumu: Askerlik muayenesi sırasında bilateral işitme azlığı saç ve iris pigmentasyon bozuklukları tespit edilen 26 yaşındaki erkek hasta WS tip 2 ön tanısı ile araştırıldı. Sonuç: WS, genetik geçişli olduğu için aile fertlerinde genetik danışmanlık ve hasta bireylerde erken teşhis ve rehabilitasyon önemlidir.

Waardenburg syndrome: A case report

Objective: Waardenburg syndrome (WS) is a rare autosomal dominant disorder that is characterized by clinical manifestation of partial albinism, white forelock, congenital deafness, iris heterochromia, hypopigmented lesions of macula, lateral displacement of the inner canthi and lacrimal puncta, prominence and width of nasal root and prominence of medial eyebrows. We aimed to present a male patient which had a diagnosis of WS type 2. Case report: During military service qualifying examination, a 26 year-old male who had bilateral hearing loss, partial albinism and iris heterochromia was detected and was investigated with a pre-diagnosis of WS type 2. Conclusion: As WS is an inherited disorder, genetic counsiling in family members, early diagnosis and rehabilitation in affected subjects is crucial.

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