Ocular Findings in Patients with Waardenburg Syndrome

Yıl 2013, Cilt: 15 Sayı: 3, 60 - 63, 01.12.2013

Halil İbrahim Önder Murat Tunç Harun Yüksel Fatma Sılan Murat Kaya

Öz

Waardenburg Syndrome (WS) is a heterogenous group of auditory-pigmentary syndromes.WSis characterized by the association of pigmentation abnormalities, including depigmented patchesof the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss.Hearing loss and other phenotypic expression is highly variable. WS can be seen with afrequency of 1/20000 - 1/42000 in different populations

Anahtar Kelimeler

Waardenburg syndrome, iris heterochromia, deafness

Waardenburg Sendromlu Hastalarda Göz Bulguları

Öz

Waardenburg Sendromu (WS) işitsel-pigmenter sendromların heterojen bir grubudur. WS ciltve saçta depigmente yamalar, canlı mavi gözler veya iris heterokromisi ve sensörinöral işitmekaybı bulgularını içeren pigmentasyon anormallikleri ile karakterizedir.İşitme azlığı ve diğerfenotipik özellikler yüksek oranda değişkenlik gösterir.WS değişik toplumlarda 1/20000 ile1/42000 sıklıkta görülebilmektedir

Anahtar Kelimeler

Waardenburg sendromu, iris heterokromisi, işitme kaybı

Kaynakça

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