Journals / Okmeydanı Tıp Dergisi / 2012 / Cilt: 28 - Sayı: 3

Waardenburg syndrome (report of 4 cases)

Waardenburg sendromu (dört olgu nedeniyle)

Pages
157–161
DOI
—
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AI Summary & Key Takeaways

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

To improve the quality of life, app- ropriate hearing aids was recommended by measu- ring hearing levels.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Waardenburg syndrome (WS) is a rare hereditary autosomal dominant disorder which is characteri- zed by congenital neurosensorial hearing loss with various phenotypic features.
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Key Findings & Data:In this study, we desc- ribed 4 patients with WS who had hearing loss.
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Conclusion & Impact:To improve the quality of life, app- ropriate hearing aids was recommended by measu- ring hearing levels.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Waardenburg syndrome (WS) is a rare hereditary autosomal dominant disorder which is characteri- zed by congenital neurosensorial hearing loss with various phenotypic features. In this study, we desc- ribed 4 patients with WS who had hearing loss. Bilateral hearing loss, hair and iris pigmentation disorder were presented in all patients, and leuco- derma was detected in one patient. Other systemic examinations of the patients revealed no patholo- gical findings. To improve the quality of life, app- ropriate hearing aids was recommended by measu- ring hearing levels.

Özet

Waardenburg Sendromu (WS) konjenital senso- rinöral işitme kaybı ve çeşitli fenotipik özellikleri olan otozomal dominant geçişli herediter bir has- talıktır. Bu çalışmamızda işitme kaybı olan ve Wa- ardenburg Sendromu tanısı konan 4 olgu sunuldu. Bilateral işitme kaybı, saç ve iriste pigmentasyon bozukluğu olgularımızın tümünde mevcut olup, ciltte lökoderma ise 1 olgumuzda tespit edildi. Olgularımızın diğer sistemik taramaları normaldi. Hastaların yaşam kalitesini arttırmak için işitme se- viyeleri belirlenerek uygun işitme cihazları kullan- maları sağlandı.

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Cite This Article

BAL, M., BERKİTEN, G., TOPALOĞLU, İ., BÜYÜKKOÇ, O. (2012). Waardenburg syndrome (report of 4 cases). Okmeydanı Tıp Dergisi, Cilt: 28 - Sayı: 3, 157–161. https://ajindex.com/articles/291877

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References (1)

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