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Stickler's syndrome.

作者信息

Temple I K

机构信息

Mothercare Department of Genetics, Institute of Child Health, London.

出版信息

J Med Genet. 1989 Feb;26(2):119-26. doi: 10.1136/jmg.26.2.119.

DOI:10.1136/jmg.26.2.119
PMID:2918540
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015563/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/d321ae717dc3/jmedgene00052-0051-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/78b79ab6162c/jmedgene00052-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/fa75eb8984ad/jmedgene00052-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/ef4f73b0be5a/jmedgene00052-0048-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/6505b0c632b1/jmedgene00052-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/7f0828fffb71/jmedgene00052-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/bfe07c7df185/jmedgene00052-0049-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/d8d177ac811c/jmedgene00052-0050-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/81075ecc2cda/jmedgene00052-0050-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/91e9acf4f5f3/jmedgene00052-0050-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/a502d7bd886f/jmedgene00052-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/d321ae717dc3/jmedgene00052-0051-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/78b79ab6162c/jmedgene00052-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/fa75eb8984ad/jmedgene00052-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/ef4f73b0be5a/jmedgene00052-0048-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/6505b0c632b1/jmedgene00052-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/7f0828fffb71/jmedgene00052-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/bfe07c7df185/jmedgene00052-0049-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/d8d177ac811c/jmedgene00052-0050-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/81075ecc2cda/jmedgene00052-0050-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/91e9acf4f5f3/jmedgene00052-0050-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/a502d7bd886f/jmedgene00052-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/d321ae717dc3/jmedgene00052-0051-b.jpg

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Stickler's syndrome.斯蒂克勒综合征。
J Med Genet. 1989 Feb;26(2):119-26. doi: 10.1136/jmg.26.2.119.
2
Long-term follow-up of ocular findings in children with Stickler's syndrome.斯蒂克勒综合征患儿眼部表现的长期随访
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The spinal manifestations of Stickler's syndrome.斯蒂克勒综合征的脊柱表现。
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Stickler's syndrome: a study of 12 families.斯蒂克勒综合征：对12个家庭的研究
Br J Ophthalmol. 1987 Jul;71(7):504-9. doi: 10.1136/bjo.71.7.504.
7
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].
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8
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].[斯蒂克勒综合征或遗传性进行性关节眼病]
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Ocular and systemic manifestations of Stickler's syndrome: a preliminary report.斯蒂克勒综合征的眼部和全身表现：初步报告。
Birth Defects Orig Artic Ser. 1982;18(6):539-60.
10
Hearing loss in Stickler's syndrome: a family case study.斯蒂克勒综合征中的听力损失：一项家族病例研究。
J Am Acad Audiol. 1990 Jan;1(1):37-40.

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Genes (Basel). 2021 Sep 11;12(9):1403. doi: 10.3390/genes12091403.
2
Auditory dysfunction in type 2 Stickler Syndrome.2 型 Stickler 综合征的听觉功能障碍。
Eur Arch Otorhinolaryngol. 2021 Jul;278(7):2261-2268. doi: 10.1007/s00405-020-06306-y. Epub 2020 Sep 8.
3
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

本文引用的文献

1
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.遗传性进行性关节-眼病
Mayo Clin Proc. 1965 Jun;40:433-55.
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[SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA].[皮埃尔·罗宾综合征与胎儿软骨发育不良的同时发生]
Monatsschr Kinderheilkd (1902). 1964 Jun;112:315-7.
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Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect.外胚层发育不良；伴有眼部异常和听力缺陷的家族报告。
1型斯-利克勒综合征患者COL2A1基因的一种新突变：病例报告及文献复习
J Med Case Rep. 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y.
4
Genetics of Hearing Loss: Syndromic.遗传性听力损失：综合征型。
Otolaryngol Clin North Am. 2015 Dec;48(6):1041-61. doi: 10.1016/j.otc.2015.07.007. Epub 2015 Oct 9.
5
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome.年轻患者的骨关节炎：一项诊断挑战——1例司的克勒综合征病例
Open Rheumatol J. 2014 Dec 19;8:100-2. doi: 10.2174/1874312901408010100. eCollection 2014.
6
Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis.全基因组测序揭示了与非综合征性X连锁显性先天性牙齿缺失相关的外胚层发育不全蛋白A（EDA）中的新型非同义突变。
PLoS One. 2014 Sep 9;9(9):e106811. doi: 10.1371/journal.pone.0106811. eCollection 2014.
7
Hearing impairment in Stickler syndrome: a systematic review.斯蒂克勒综合征的听力障碍：系统评价。
Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84.
8
Syndromes of the first and second branchial arches, part 2: syndromes.第一、二腮弓综合征，第 2 部分：综合征。
AJNR Am J Neuroradiol. 2011 Feb;32(2):230-7. doi: 10.3174/ajnr.A2073. Epub 2010 Apr 1.
9
The p63 gene in EEC and other syndromes.EEC及其他综合征中的p63基因。
J Med Genet. 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377.
10
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.COL11A1基因中54个碱基对外显子的剪接突变会导致马歇尔综合征，但其他突变会导致重叠的马歇尔/斯迪克勒表型。
Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585.
Am J Ophthalmol. 1958 Apr;45(4 Pt 2):143-56.
4
[Differential diagnosis between dysostosis enchondralis and chondrodystrophy].[内生软骨发育异常与软骨发育不良的鉴别诊断]
Z Kinderheilkd. 1952;70(6):633-40.
5
Marshall/Stickler syndrome.马歇尔/斯蒂克勒综合征
J Med Genet. 1982 Apr;19(2):139-40. doi: 10.1136/jmg.19.2.139.
6
The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.
Am J Med Genet. 1982 Jan;11(1):113-9. doi: 10.1002/ajmg.1320110113.
7
The Marshall and Stickler syndromes: objective rejection of lumping.马歇尔综合征和斯蒂克勒综合征：反对笼统归类的客观依据
J Med Genet. 1984 Feb;21(1):34-8. doi: 10.1136/jmg.21.1.34.
8
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.
Am J Med Genet. 1983 Oct;16(2):189-99. doi: 10.1002/ajmg.1320160209.
9
A recessively inherited chondrodystrophy.一种隐性遗传的软骨发育不良。
Birth Defects Orig Artic Ser. 1970 Oct;6(4):25-7.
10
Hereditary hyaloideoretinal degeneration and palatoschisis.遗传性玻璃体视网膜变性和腭裂
Arch Ophthalmol. 1970 Feb;83(2):152-62. doi: 10.1001/archopht.1970.00990030154006.