scholarly journals Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

2020 ◽  
Author(s):  
Keyword(s):  
Early Onset ◽  
Spondyloepiphyseal Dysplasia ◽  
Col2a1 Mutation

scholarly journals A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  
Keyword(s):  
Chinese Family ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Col2a1 Mutation

scholarly journals COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family

2021 ◽  
Vol Volume 14 ◽  
pp. 2569-2574
Author(s):  
Pengyu Li ◽  
Anran Wang ◽  
Jiangxia Li ◽  
Xi Li ◽  
Wenjie Sun ◽  
...  
Keyword(s):  
Early Onset ◽  
Chinese Family ◽  
Col2a1 Mutation

scholarly journals Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Associated with Early-onset Hip Arthritis – A Case Report

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
C Prabaharan ◽  
J K Giriraj Harshavardhan ◽  
P Gopinath Menon
Keyword(s):  
Case Report ◽  
Total Hip Arthroplasty ◽  
Hip Arthroplasty ◽  
Early Onset ◽  
Hip Osteoarthritis ◽  
Total Hip ◽  
Spondyloepiphyseal Dysplasia ◽  
Hip Arthritis ◽  
Operative Planning ◽  
Spondyloepiphyseal Dysplasia Tarda

Introduction: Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare inherited dysfunction with autosomal recessive inheritance. SEDT-PA is also named as progressive pseudorheumatoid arthropathy of childhood as it is associated with multiple joint contractures and arthritis. We report a case of SEDT-PA managed with bilateral stage total hip arthroplasty. Case Report: A 22-year-old lady presented with severe bilateral hip arthritis. Based on her clinical and radiological features described in this article, she was diagnosed as having SEDT-PA. She was managed with bilateral stage total hip arthroplasty. The pre-operative planning and technical challenges of performing this procedure have been described. Conclusion: Dysfunctions originally of genetic origin like spondyloepiphyseal dysplasia tarda mimics and is commonly misdiagnosed as juvenile chronic arthritis. These patients have disabling early-onset hip arthritis which requires surgery. Arthroplasty is challenging in these patients because of the low proximal femur offset but good results can be obtained after thorough pre-operative planning to tackle intraoperative difficulties. Keywords: Spondyloepiphyseal dysplasia, Early-onset hip osteoarthritis, Bilateral total hip arthroplasty.

A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

2020 ◽  
Vol 40 (3) ◽  
pp. 281-288 ◽  
Author(s):  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiaoyun Jia ◽  
Qingjiong Zhang
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

2001 ◽  
Vol 28 (1) ◽  
pp. 89-93 ◽  
Author(s):  
J. R. Garcia-Lozano ◽  
M. F. Gonzalez-Escribano ◽  
A. Valenzuela ◽  
A. Garcia ◽  
A. Nunez-Roldan
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Early Onset
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