Harran Üniversitesi Tıp Fakültesi Dergisi 1304-9623 1309-4025 Harran University 10.35440/hutfd.1187444 Clinical Sciences Klinik Tıp Bilimleri Spondiloepifizyal Displazisi Olan Bir Hastada CHST3 Geninde Yeni İn-frame Tip Delesyon A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia https://orcid.org/0000-0003-3231-404X Çetin Baki Volkan HARRAN ÜNİVERSİTESİ, TIP FAKÜLTESİ https://orcid.org/0000-0001-5987-2813 Sipahioğlu Serkan ORDU UNIVERSITY, SCHOOL OF MEDICINE https://orcid.org/0000-0001-9932-0730 Gümüş Everen MUGLA SITKI KOCMAN UNIVERSITY, FACULTY OF MEDICINE 12 27 2022 19 3 658 661 10 11 2022 11 21 2022 Copyright © 2004, Journal of Harran University Medical Faculty 2004 Journal of Harran University Medical Faculty

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.

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.

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