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Journals / MN Oftalmoloji / 2018 / Cilt: 25 - Sayı: 1

Kabuki Syndrome: Two Case Reports

Kabuki Sendromu: İki Olgu Sunumu

Berna ŞAHAN
Şule ZİYLAN
Muhsin ALTUNSOY
Pages
47–49
DOI
—
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AI Summary & Key Takeaways

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

In suspected patients, genetic re- search and necessary interventions should be done according to the type of anomaly.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Kabuki syndrome is a syndrome that includes multiple congenital anomalies.
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Key Findings & Data:Ophthalmic examinations were performed in 2 patients with genetically diagnosed Kabuki syndrome.
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Conclusion & Impact:In suspected patients, genetic re- search and necessary interventions should be done according to the type of anomaly.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Kabuki syndrome is a syndrome that includes multiple congenital anomalies. A characteristic face, skeletal dermatoglyphic abnormalities, mental retardation and postnatal growth deficiency could be seen in patients with Kabuki syndrome. Ophthalmic examinations were performed in 2 patients with genetically diagnosed Kabuki syndrome. Six-month-old male patient had typical facial appearance, blue sclera (both eyes), anopthalmos (right eye), micropthalmos and scleracornea (left eye). Typical facial appearance, esotropia and inferior oblique muscle hyper- function were detected in 4-year-old girl. Facial appearance is characteristic and is seen in every patient. In suspected patients, genetic re- search and necessary interventions should be done according to the type of anomaly.

Özet

Kabuki sendromu multipl konjenital anomalileri içeren bir sendromdur. Kabuki sendromu hastalarında karakteristik yüz görünümü, iske- let anomalileri, dermatolojik anomaliler, mental retardasyon ve büyüme geriliği görülebilmektedir. Genetik olarak Kabuki sendromu tanısı ko- nulmuş olan 2 hastanın oftalmik muayeneleri yapıldı. Altı aylık erkek hastada tipik yüz görünümü, bilateral mavi sklera, sağ anoftalmi, sol mik- roftalmi ve sklerokornea tespit edildi. Dört yaşındaki kız hastada ise tipik yüz görünümü, ezotropya, alt oblik kas hiperfonksiyonu tespit edildi. Kabuki sendromunda yüz görünümü karakteristiktir ve her hastada görülmektedir. Şüphelenilen hastalarda genetik araştırmalar ve anomali ti- pine göre gerekli müdahaleler yapılmalıdır.

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Cite This Article

ŞAHAN, B., ZİYLAN, Ş., ALTUNSOY, M. (2018). Kabuki Syndrome: Two Case Reports. MN Oftalmoloji, Cilt: 25 - Sayı: 1, 47–49. https://ajindex.com/articles/295410

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