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Journals / Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi / 2007 / Cilt: 47 - Sayı: 2

Secretory otitis media association with Kabuki syndrome: Case report

Kabuki sendromunda seröz otit media

Önal GÜRSAN
Çelik KOLDAŞ
Oğuz GÜÇLÜ
Mahmut DENİZ
Burak ÜLKÜMEN
Tahir BÜLBÜL
Celil USLU
Pages
335–338
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

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

We report a 6-year-old boy with overlapping manifestations of the Kabuki syndrome having bilateral secretory otitis media.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The Kabuki syndrome, or Niikawa-Kuroki syndrome, is a clinically recognizable congenital syndrome of unknown etiology.
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Key Findings & Data:The birth prevalence was calculated at 1 in 86,000.
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Conclusion & Impact:We report a 6-year-old boy with overlapping manifestations of the Kabuki syndrome having bilateral secretory otitis media.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The Kabuki syndrome, or Niikawa-Kuroki syndrome, is a clinically recognizable congenital syndrome of unknown etiology. The birth prevalence was calculated at 1 in 86,000. Approximately more than 350 cases have been reported from all over the world. Clinical findings include early hypotonia, joint laxity, developmental delay, facial dysmorphism, cleft palate, hypodontia, lip nodules, heart defects, and a variety of other structural defects. There are increasing number of reports of patients with combined hearing impairment, inner ear deformities or sensorineural hearing impairment. In addition, the patients often suffer from therapy-resistant chronic otitis media. We report a 6-year-old boy with overlapping manifestations of the Kabuki syndrome having bilateral secretory otitis media.

Özet

Kabuki sendromu veya Niikawa-Kuroki sendromu klinik bulgular ışığında tanı konulabilen ve genetik geçişi tam olarak bilinmeyen konjenital bir sendromdur. Doğum prevelansı 1/86000 olarak hesaplanan Kabuki sendromuna sahip günümüze kadar 350 den fazla vaka bildirilmiştir. Klinik bulguları arasında erken hipoto-ni, eklem esnekliği, gelişme geriliği, fasiyal dismorfi-zim, yarık damak, hipodonti, dudak nodülleri, kalp de-fektleri ve çeşitli yapısal bozukluklar yer almaktadır. Bu hastalarda işitme bozuklukları, iç kulak deformiteleri veya sensörinöral işitme kaybı ile ilgili giderek artan sayıda yayın bulunmaktadır. Ek olarak tedaviye dirençli kronik otit media da gözükmektedir. Biz Kabuki sendromu bulgularına uyan ve bilateral seröz otit media mevcut olan 6 yaşında bir erkek çocuk sunduk.

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Cite This Article

GÜRSAN, Ö., KOLDAŞ, Ç., GÜÇLÜ, O., DENİZ, M., ÜLKÜMEN, B., BÜLBÜL, T., USLU, C. (2022). Secretory otitis media association with Kabuki syndrome: Case report. Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi, Cilt: 47 - Sayı: 2, 335–338. https://ajindex.com/articles/535571

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