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Journals / Çocuk Dergisi / 2026 / Cilt: 11 Sayı: 2

Johanson Blizzard Syndrome

Johanson Blizzard Sendromu

Selvi Gülaşı(Mersin Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Neonatoloji Bilim Dalı)
Ali Haydar Turhan(Mersin Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Neonatoloji Bilim Dalı)
Yalçın Çelik(Mersin Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Neonatoloji Bilim Dalı)
Aytuğ Atıcı(Mersin Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Neonatoloji Bilim Dalı)
Pages
86–89
Publication Date
2011-04-01
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AI Summary & Key Takeaways

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

A newborn -diagno- sed as Johanson Blizzard syndrome because of hypoplasia of alae nasi and anal atresia is reported

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Johanson Blizzard syndrome JBS is a rare autosomal recessive congenital disorder characterized with aplasia or hypoplasia of alae nasi, teeth, and midline dermal defects, growth retardation, mental retardation, hypothyro- idism, congenital heart defects, pancreatic insufficiency, anal atresia, and congenital deafness.
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Key Findings & Data:Johanson Blizzard syndrome JBS is a rare autosomal recessive congenital disorder characterized with aplasia or hypoplasia of alae nasi, teeth, and midline dermal defects, growth retardation, mental retardation, hypothyro- idism, congenital heart defects, pancreatic insufficiency, anal atresia, and congenital deafness.
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Conclusion & Impact:A newborn -diagno- sed as Johanson Blizzard syndrome because of hypoplasia of alae nasi and anal atresia is reported
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Johanson-Blizzard sendromu · ektodermal displazi · burun kanadı aplazisi

Abstract

Johanson Blizzard syndrome JBS is a rare autosomal recessive congenital disorder characterized with aplasia or hypoplasia of alae nasi, teeth, and midline dermal defects, growth retardation, mental retardation, hypothyro- idism, congenital heart defects, pancreatic insufficiency, anal atresia, and congenital deafness. A newborn -diagno- sed as Johanson Blizzard syndrome because of hypoplasia of alae nasi and anal atresia is reported

Özet

Johanson Blizzard Sendromu JBS ender görülen; burun kanatlarının yokluğu veya az gelişmişliği, dişte yapısal bozukluklar, orta hat deri defektleri, büyüme ve zekâ geri- liği, pankreas yetmezliği, anüsün doğuştan kapalı olması ve doğumsal sağırlıkla kendini gösteren bir durumdur. Otozomal resesif kalıtılır. Anüsün kapalı olması nedeniyle getirilen ve burun kanadında az gelişmişlik saptanan vaka- da JBS düşünülmüş ve ender rastlanması nedeniyle sunul- muştur

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Cite This Article

Gülaşı, S., Turhan, A. H., Çelik, Y., Atıcı, A. (2011). Johanson Blizzard Syndrome. Çocuk Dergisi, Cilt: 11 Sayı: 2, 86–89. https://doi.org/10.5222/j.child.2011.086

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References (9)

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