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Journals / Düzce Tıp Fakültesi Dergisi / 2013 / Cilt: 15 - Sayı: 3

Ocular Findings in Patients with Waardenburg Syndrome

Waardenburg Sendromlu Hastalarda Göz Bulguları

Halil İbrahim ÖNDER
Murat TUNÇ
Harun YÜKSEL
Fatma SILAN
Murat KAYA
Pages
60–63
Publication Date
2013-12-01
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

WS can be seen with afrequency of 1/20000 - 1/42000 in different populations

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data: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.
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Conclusion & Impact:WS can be seen with afrequency of 1/20000 - 1/42000 in different populations
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Waardenburg sendromu · iris heterokromisi · işitme kaybı

Abstract

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

Özet

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

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Cite This Article

ÖNDER, H. İ., TUNÇ, M., YÜKSEL, H., SILAN, F., KAYA, M. (2013). Ocular Findings in Patients with Waardenburg Syndrome. Düzce Tıp Fakültesi Dergisi, Cilt: 15 - Sayı: 3, 60–63. https://ajindex.com/articles/420570

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