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Journals / Turkish Journal of Hematology / 2001 / Cilt: 18 - Sayı: 3

Bernard-Soulier syndrome like platelet defect in a patient with Noonan syndrome: A case report

Ahmet KOÇ
Mustafa KÖSECİK
M. Mansur TATLI
ALİ ATAŞ
H. Haldun EMİROĞLU
Pages
191–193
DOI
—
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AI Summary & Key Takeaways

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

We report here a four-year-old male patient with Noonan Syndrome and BSS like platelet defect

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Noonan's Syndrome (NS) is characterized by dismorphic facial features, short stature, short or webbed neck, congenital heart defects and testicular abnormalities.
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Key Findings & Data:Various bleeding disorders in Noonan Syndrome have been reported.
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Conclusion & Impact:We report here a four-year-old male patient with Noonan Syndrome and BSS like platelet defect
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Hastalık duyarlılığı · Noonan sendromu · Bernard-Soulier sendromu

Özet

Noonan's Syndrome (NS) is characterized by dismorphic facial features, short stature, short or webbed neck, congenital heart defects and testicular abnormalities. Various bleeding disorders in Noonan Syndrome have been reported. Bernard-Soulier Syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia and giant platelets. There is not any reported case of Noonan syndrome associated with BSS in literature. We report here a four-year-old male patient with Noonan Syndrome and BSS like platelet defect

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Cite This Article

KOÇ, A., KÖSECİK, M., TATLI, M. M., ATAŞ, A., EMİROĞLU, H. H. (2001). Bernard-Soulier syndrome like platelet defect in a patient with Noonan syndrome: A case report. Turkish Journal of Hematology, Cilt: 18 - Sayı: 3, 191–193. https://ajindex.com/articles/412979

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