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Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.

作者信息

Teebi A S, Al Awadi S A

出版信息

J Med Genet. 1986 Apr;23(2):189-91. doi: 10.1136/jmg.23.2.189-a.

DOI:10.1136/jmg.23.2.189-a
PMID:3712405
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049586/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/d0feb1a7dd81/jmedgene00088-0094-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/52b922b8612c/jmedgene00088-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/d8e01cd9b7bd/jmedgene00088-0094-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/d0feb1a7dd81/jmedgene00088-0094-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/52b922b8612c/jmedgene00088-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/d8e01cd9b7bd/jmedgene00088-0094-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a63/1049586/d0feb1a7dd81/jmedgene00088-0094-c.jpg

相似文献

1
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.迟发性脊椎骨骺发育不良伴进行性关节病：一种在阿拉伯人群中常被诊断出的罕见疾病。
J Med Genet. 1986 Apr;23(2):189-91. doi: 10.1136/jmg.23.2.189-a.
2
[Spondyloepiphyseal dysplasia tarda with progressive arthropathy: 2 siblings affected].迟发性脊椎骨骺发育不良伴进行性关节病：2名受累同胞
Bol Med Hosp Infant Mex. 1992 Oct;49(10):678-82.
3
[Spondylo-epiphysial dysplasia tarda with progressive arthropathy].迟发性脊椎骨骺发育不良伴进行性关节病
Zhonghua Fang She Xue Za Zhi. 1986 Apr;20(2):97-9.
4
[Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Apropos of 3 cases].[迟发性脊椎骨骺发育不良伴进行性关节病。附3例报告]
Int Orthop. 1987;11(3):271-5. doi: 10.1007/BF00271460.
5
Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy.基因符号：WISP3。疾病：迟发性脊椎骨骺发育不良伴进行性关节病。
Hum Genet. 2004 Jul;115(2):169.
6
[Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease].迟发性脊椎骨骺发育不良伴进行性关节病：一名患者的描述，其母亲表现出该疾病的轻微特征
Pathologica. 1993 Mar-Apr;85(1096):225-31.
7
Spondyloepiphyseal dysplasia tarda with progressive arthropathy.迟发性脊椎骨骺发育不良伴进行性关节病
Clin Rheumatol. 2000;19(3):238-41. doi: 10.1007/s100670050166.
8
Spondyloepiphyseal dysplasia tarda with progressive arthropathy.迟发性脊椎骨骺发育不良伴进行性关节病。
J Med Genet. 1984 Jun;21(3):193-6. doi: 10.1136/jmg.21.3.193.
9
Gene symbol: WISP3. Disease: spondyloepihyseal dysplasia tarda with progressive arthropathy.基因符号：WISP3。疾病：迟发性脊椎骨骺发育不良伴进行性关节病。
Hum Genet. 2004 Jul;115(2):174.
10
Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.迟发性脊椎骨骺发育不良：一种伴有智力迟钝的新型常染色体隐性变异型。
J Med Genet. 1987 Jun;24(6):366-9. doi: 10.1136/jmg.24.6.366.

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Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant.儿童进行性假类风湿性发育不良（PPRD）——一例携带复发性c.740_741del变异的病例系列报道
J Pediatr Genet. 2021 Oct 25;13(1):62-68. doi: 10.1055/s-0041-1736611. eCollection 2024 Mar.
2
Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.一个阿拉伯家庭中存在新型 WISP3 致病性变异和 MEFV 突变，表现为进行性假性类风湿发育不良，类似于多发性幼年特发性关节炎。
Pediatr Rheumatol Online J. 2020 Sep 7;18(1):69. doi: 10.1186/s12969-020-00462-5.
3

本文引用的文献

1
Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis.儿童进行性假类风湿性关节炎（PPAC）。一种模拟类风湿性关节炎的遗传性疾病。
Eur J Pediatr. 1983 Mar;140(1):34-40. doi: 10.1007/BF00661902.
2
Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.迟发性脊椎骨骺发育不良伴进行性关节病。一种常染色体隐性遗传的“新”疾病。
J Bone Joint Surg Br. 1982;64(4):442-5. doi: 10.1302/0301-620X.64B4.6807993.
3
Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
Novel homozygous variant in in a family with unrecognized progressive pseudorheumatoid dysplasia.
一个患有未被识别的进行性假类风湿性发育不良的家族中的新型纯合变异体。
Clin Case Rep. 2020 May 3;8(8):1452-1457. doi: 10.1002/ccr3.2884. eCollection 2020 Aug.
4
CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.在中国进行性假性类风湿发育不良患者中检测 CCN6 突变及鉴定四个新的突变。
Mol Genet Genomic Med. 2020 Jul;8(7):e1261. doi: 10.1002/mgg3.1261. Epub 2020 Apr 29.
5
A Novel Homozygous Frameshift Mutation in Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.一个导致也门近亲家庭中进行性假类风湿性发育不良（PPRD）的新型纯合移码突变
Front Pediatr. 2019 Jun 25;7:245. doi: 10.3389/fped.2019.00245. eCollection 2019.
6
Noninflammatory disorders mimic juvenile idiopathic arthritis.非炎性疾病可模仿幼年特发性关节炎。
Int J Pediatr Adolesc Med. 2018 Mar;5(1):1-4. doi: 10.1016/j.ijpam.2018.01.004. Epub 2018 Feb 24.
7
Progressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings.进行性假性类风湿发育不良：三例报告及影像学和磁共振成像表现回顾。
Skeletal Radiol. 2019 Sep;48(9):1323-1328. doi: 10.1007/s00256-019-3165-z. Epub 2019 Feb 2.
8
Progressive pseudorheumatoid dysplasia: a rare childhood disease.进行性假性类风湿发育不良：一种罕见的儿童疾病。
Rheumatol Int. 2019 Mar;39(3):441-452. doi: 10.1007/s00296-018-4170-6. Epub 2018 Oct 16.
9
An Unusual Coexistence of Progressive Pseudorheumatoid Dysplasia and Relapsing Polychondritis.进行性假类风湿性发育不良与复发性多软骨炎的罕见共存。
Arch Rheumatol. 2016 Apr 13;31(3):290-294. doi: 10.5606/ArchRheumatol.2016.5994. eCollection 2016 Sep.
10
Progressive Pseudorheumatoid Dysplasia or JIA?进行性假类风湿性发育不良还是幼年特发性关节炎？
Case Rep Rheumatol. 2017;2017:1609247. doi: 10.1155/2017/1609247. Epub 2017 Feb 21.
迟发性脊椎骨骺发育不良伴进行性关节病。
J Med Genet. 1984 Jun;21(3):193-6. doi: 10.1136/jmg.21.3.193.