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Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W. Liu L, et al. Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8. Eur Spine J. 2016. PMID: 27059630 Review.
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese popula …
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC …
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).
De Kinderen P, Rabaut L, Perik MHAM, Peeters S, Ponsaerts P, Loeys B, Mortier G, Meester JAN, Verstraeten A. De Kinderen P, et al. Stem Cell Res. 2023 Jun;69:103080. doi: 10.1016/j.scr.2023.103080. Epub 2023 Mar 21. Stem Cell Res. 2023. PMID: 36966641 Free PMC article.
Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short st …
Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic …
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Xing XP, Li M. Zheng WB, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1139. doi: 10.1002/mgg3.1139. Epub 2020 Jan 23. Mol Genet Genomic Med. 2020. PMID: 31972903 Free PMC article.
BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease-associated varia …
BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia charac …
A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
Zhou T, Yang X, Chen Z, Zhou Y, Cao X, Zhao C, Zhao J. Zhou T, et al. J Clin Lab Anal. 2021 Apr;35(4):e23728. doi: 10.1002/jcla.23728. Epub 2021 Feb 16. J Clin Lab Anal. 2021. PMID: 33590889 Free PMC article.
BACKGROUND: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. ...Gly813Arg), has been reported to cause SEDC in only one patient from …
BACKGROUND: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by sh …
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.
Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG. Bayhan IA, et al. J Pediatr Orthop. 2019 Jul;39(6):282-288. doi: 10.1097/BPO.0000000000000945. J Pediatr Orthop. 2019. PMID: 31169747
BACKGROUND: Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proximal femoral osteotomy has been described as a useful treatment. ...Outcomes were also compared between 3 age groups. RESULTS: Of the 79 childr …
BACKGROUND: Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proxima …
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B. Nguyen DB, et al. Am J Med Genet A. 2021 Jul;185(7):2108-2118. doi: 10.1002/ajmg.a.62236. Epub 2021 Apr 28. Am J Med Genet A. 2021. PMID: 33908178
We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and s …
We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic …
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067. Radiographics. 2023. PMID: 37053103
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. ...
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia …
Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning.
Bisht RU, Van Tassel DC, Belthur MV. Bisht RU, et al. Clin Imaging. 2022 Jun;86:94-97. doi: 10.1016/j.clinimag.2022.03.019. Epub 2022 Mar 30. Clin Imaging. 2022. PMID: 35397299
We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspond …
We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder t …
Radiologic Features of Type II and Type XI Collagenopathies.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2021 Jan-Feb;41(1):192-209. doi: 10.1148/rg.2021200075. Epub 2020 Nov 13. Radiographics. 2021. PMID: 33186059
Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler group. The SEDC group is characterized by delayed ossification of the juxtatruncal bone …
Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita …
Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum.
Yeter B, Kendir Demirkol Y, Eser M, Akgülle AH, Sözeri B, Kırmızıbekmez H. Yeter B, et al. J Clin Res Pediatr Endocrinol. 2025 Aug 22;17(3):297-306. doi: 10.4274/jcrpe.galenos.2025.2024-9-7. Epub 2025 Jan 24. J Clin Res Pediatr Endocrinol. 2025. PMID: 39849673 Free PMC article.
RESULTS: Based on clinical, radiological, and molecular results, the six patients were categorized into kniest dysplasia, spondyloepiphyseal dysplasia congenita, and spondyloepimetaphyseal dysplasia Strudwick type. ...
RESULTS: Based on clinical, radiological, and molecular results, the six patients were categorized into kniest dysplasia, spondyloepiphys …
25 results