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Journals / Causapedia / 2019 / Cilt: 8 - Sayı: 1

A Condition Mimicking Rheumatologic Diseases: Spondyloepiphysial Dysplasia Tarda with Progressive Arthropathy İç Hastalıkları

Romatolojik Hastalıkları Taklit Eden Bir Durum: Progresif Artropatili Spondiloepifizyal Displazi Tarda

Atalay DOGRU
Mustafa Özgür PİRGON
Mehmet ŞAHİN
Journal
Causapedia
Pages
22–25
DOI
—
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AI Summary & Key Takeaways

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

Here, we present a case of SED tarda with progressive arthropathy

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Spondyloepiphysial dysplasia (SED) is a rare genetic disease that affects bone growth in the spine, arms and legs.
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Key Findings & Data:It is caused by mutations in the genes responsible for the proteins necessary for bone and cartilage formation.
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Conclusion & Impact:Here, we present a case of SED tarda with progressive arthropathy
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Spondyloepiphysial dysplasia (SED) is a rare genetic disease that affects bone growth in the spine, arms and legs. It is caused by mutations in the genes responsible for the proteins necessary for bone and cartilage formation. Since it is clinically similar to rheumatologic diseases, SED is misdiagnosed as rheumatologic disease which derives in wrong treatment. Here, we present a case of SED tarda with progressive arthropathy

Özet

Spondiloepifizyal displazi (SED) omurga, kol ve bacaklarda kemik büyümesini etkileyen nadir görülen genetik bir hastalıktır. Kemik ve kıkırdak oluşumu için gerekli olan proteinleri yapmaktan sorumlu olan genlerdeki mutasyonlardan kaynaklanmaktadır. Romatolojik hastalıklara klinik olarak benzerlik göstermesi nedeniyle romatolojik hastalık tanısı alıp yanlış tedavi uygulanmaktadır. Burada Progresif artropatili SED tarda tanısı alan bir vaka sunulmaktadır.

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Cite This Article

DOGRU, A., PİRGON, M. Ö., ŞAHİN, M. (2019). A Condition Mimicking Rheumatologic Diseases: Spondyloepiphysial Dysplasia Tarda with Progressive Arthropathy İç Hastalıkları. Causapedia, Cilt: 8 - Sayı: 1, 22–25. https://ajindex.com/articles/144349

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References (6)

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