Spondiloepifizyal Displazisi Olan Bir Hastada CHST3 Geninde Yeni İn-frame Tip Delesyon

Abstract

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.

Keywords

• CHST3
• kondrodisplazi
• spondiloepifizyal displazi
• resesif larsen sendromu

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

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.

Keywords

• CHST3
• chondrodysplasia
• spondyloepiphyseal dysplasia
• recessive larsen syndrome

References

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