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- Title
A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia.
- Authors
ÇETİN, Baki Volkan; SİPAHİOĞLU, Serkan; GÜMÜŞ, Evren
- 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.
- Subjects
GENETIC mutation; RANGE of motion of joints; HIP joint; JOINT dislocations; RECESSIVE genes; OSTEOCHONDRODYSPLASIAS; CHROMOSOME abnormalities; ELBOW; COMORBIDITY; KNEE; CHILDREN
- Publication
Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2022, Vol 19, Issue 3, p658
- ISSN
1304-9623
- Publication type
Article
- DOI
10.35440/hutfd.1187444