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Journals / Harran Üniversitesi Tıp Fakültesi Dergisi / 2022 / Cilt: 19 Sayı: 3

A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia

Baki Volkan Çetin(HARRAN ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-3231-404X
Serkan Sipahioğlu(ORDU UNIVERSITY, SCHOOL OF MEDICINE)0000-0001-5987-2813
Everen Gümüş(MUGLA SITKI KOCMAN UNIVERSITY, FACULTY OF MEDICINE)0000-0001-9932-0730
Pages
658–661
Publication Date
2022-12-27
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AI Summary & Key Takeaways

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

We also included the step-by-step surgery program applied to the patient and its results.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease with different subtypes that progress with multiple dislocations.
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Key Findings & Data:It occurs due to a mutation in the CHST3 gene.
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Conclusion & Impact:We also included the step-by-step surgery program applied to the patient and its results.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:CHST3 · kondrodisplazi · spondiloepifizyal displazi

Abstract

Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease with different subtypes that progress with multiple dislocations. It occurs due to a mutation in the CHST3 gene. This syndrome requires long and cascading surgeries, which presents with short-bodied dwarfism, joint dislocations and range of motion (ROM) limitations (knee, hip, elbow). In this case report, we describe an in frame type deletion reported for the first time. We also included the step-by-step surgery program applied to the patient and its results.

Özet

Konjenital eklem çıkıklarının eşlik ettiği Spondiloepifizyal Displazi (SEDCJD); multipl çıkıklarla seyreden farklı alt tipleri bulunan genetik bir hastalıktır. CHST3 geninde mutasyon nedeniyle meydana gelir. Kısa gövdeli cücelik, eklem çıkıkları veya eklem hareket kısıtlılıklarıyla (diz,kalça,dirsek) ortaya çıkan uzun ve basamaklı cerrahiler gerektiren bir sendromdur. Bu vaka raporunda ilk kez bildirilen in frame tip bir delesyonu tanımladık. Hastaya uygulanan basamaklı cerrahi programı ve sonuçlarını da ekledik.

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Cite This Article

Çetin, B. V., Sipahioğlu, S., Gümüş, E. (2022). A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia. Harran Üniversitesi Tıp Fakültesi Dergisi, Cilt: 19 Sayı: 3, 658–661. https://doi.org/10.35440/hutfd.1187444

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References (10)

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