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Journals / Çocuk Dergisi / 2026 / Cilt: 13 Sayı: 1

A Case of Shwachman Diamond Syndrome in Neonate

Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası

Nalan Karabayır(SB Bakirköy Doğumevi Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi)
Servet Erdal Adal(SB Bakirköy Doğumevi Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi)
Arzu Akçay(SB Bakirköy Doğumevi Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi)
Türkan Uygur(SB Bakirköy Doğumevi Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi)
Pages
43–46
Publication Date
2013-01-01
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AI Summary & Key Takeaways

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

In this article, a newborn diagnosed with Shwachman-Diamond Syndrome SDS and having persisting neutropenia is presented

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Shwachman Diamond Syndrome SDS is a rare autosomal recessive disease characterized with bone marrow dysfunc- tion, exocrine pancreatic insufficiency, growth and deve- lopmental delay and skeletal abnormalities.
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Key Findings & Data:The condition which is recognized as a bone marrow failure ranks at the 3rd row of a disease which is frequently seen after Fanconi anemia and Diamond-Blackfan anemia and it’s incidence is nearly 1/75000.
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Conclusion & Impact:In this article, a newborn diagnosed with Shwachman-Diamond Syndrome SDS and having persisting neutropenia is presented
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Kemik iliği yetersizliği · Shwachman Diamond sendromu · yenidoğan

Abstract

Shwachman Diamond Syndrome SDS is a rare autosomal recessive disease characterized with bone marrow dysfunc- tion, exocrine pancreatic insufficiency, growth and deve- lopmental delay and skeletal abnormalities. The condition which is recognized as a bone marrow failure ranks at the 3rd row of a disease which is frequently seen after Fanconi anemia and Diamond-Blackfan anemia and it’s incidence is nearly 1/75000. Usually, diagnosis is possible at early childhood due to hematological disorders. In this article, a newborn diagnosed with Shwachman-Diamond Syndrome SDS and having persisting neutropenia is presented

Özet

Shwachman Diamond sendromu SDS kemik iliği disfonk- siyonu, ekzokrin pankreas yetersizliği, büyüme gelişme geriliği ve iskelet anomalileri ile karakterize otozomal resesif geçişli ender bir hastalıktır. Fanconi anemisi ve Diamond-Blacfan anemisinden sonra 3. sıklıkta görülen konjenital kemik iliği yetersizliği olan SDS 1/75000 sıklı- ğında saptanmaktadır. Tanı genellikle erken çocukluk döneminde ortaya çıkan hematolojik bozukluklarla konur. Bu makalede yenidoğan döneminde Shwacman-Diamond sendromu SDS tanısı konan ve yüksek doz G- CSF veril- mesine rağmen, nötropenisi persiste eden bir yenidoğan vakası sunulmuştur

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Cite This Article

Karabayır, N., Adal, S. E., Akçay, A., Uygur, T. (2013). A Case of Shwachman Diamond Syndrome in Neonate. Çocuk Dergisi, Cilt: 13 Sayı: 1, 43–46. https://doi.org/10.5222/j.child.2013.043

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