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特雷彻·柯林斯综合征。

Treacher Collins syndrome.

作者信息

Shete Prachi, Tupkari Jv, Benjamin Tabita, Singh Aarti

机构信息

Departments of Oral Pathology and Microbiology, Government Dental College and Hospital, Mumbai, India.

出版信息

J Oral Maxillofac Pathol. 2011 Sep;15(3):348-51. doi: 10.4103/0973-029X.86722.

DOI:10.4103/0973-029X.86722
PMID:22144845
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3227269/
Abstract

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article.

摘要

特雷彻·柯林斯综合征(TCS)是一种罕见的常染色体显性颅面发育障碍疾病。它是第一和第二鳃弓的先天性畸形,可能会影响耳朵、眼睑、颧骨和颌骨的大小和形状。面部畸形的程度在不同患者之间存在差异。本文简要描述了一名患有TCS的20岁男孩的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/7b94d74a1e97/JOMFP-15-348-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/44433bee8424/JOMFP-15-348-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/ca1028a2214b/JOMFP-15-348-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/8c7f2d02fb89/JOMFP-15-348-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/7623ac028d02/JOMFP-15-348-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/1341c75c8444/JOMFP-15-348-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/e30ff0f42d7a/JOMFP-15-348-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/7b94d74a1e97/JOMFP-15-348-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/44433bee8424/JOMFP-15-348-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/ca1028a2214b/JOMFP-15-348-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/8c7f2d02fb89/JOMFP-15-348-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/7623ac028d02/JOMFP-15-348-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/1341c75c8444/JOMFP-15-348-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/e30ff0f42d7a/JOMFP-15-348-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/364d/3227269/7b94d74a1e97/JOMFP-15-348-g007.jpg

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[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].[特雷彻·柯林斯综合征的致病基因与临床治疗策略]

本文引用的文献

1
Treacher Collins Syndrome : A Report on Two Cases.特雷彻·柯林斯综合征:两例报告
Med J Armed Forces India. 2002 Jul;58(3):267-8. doi: 10.1016/S0377-1237(02)80148-4. Epub 2011 Jul 21.
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Orofacial features of Treacher Collins syndrome.特雷彻·柯林斯综合征的口面部特征。
Med Oral Patol Oral Cir Bucal. 2009 Jul 1;14(7):E344-8.
3
Treacher Collins syndrome: etiology, pathogenesis and prevention.特雷彻·柯林斯综合征:病因、发病机制与预防
Hua Xi Kou Qiang Yi Xue Za Zhi. 2019 Jun 1;37(3):330-335. doi: 10.7518/hxkq.2019.03.020.
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Treacher Collins syndrome: A case report and review of ophthalmic features.特雷彻·柯林斯综合征:一例病例报告及眼科特征综述。
Taiwan J Ophthalmol. 2016 Oct-Dec;6(4):206-209. doi: 10.1016/j.tjo.2016.07.002. Epub 2016 Aug 12.
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[Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid].[使用骨锚式助听器对特雷彻·柯林斯综合征进行听力康复治疗]
Rev Paul Pediatr. 2015 Dec;33(4):483-7. doi: 10.1016/j.rpped.2015.01.010. Epub 2015 Aug 1.
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Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature.下颌面骨发育不全(特雷彻·柯林斯综合征):一例病例报告及文献综述。
Contemp Clin Dent. 2014 Oct;5(4):532-4. doi: 10.4103/0976-237X.142826.
7
Treacher Collins syndrome with microcornea and retinal detachment.伴有小角膜和视网膜脱离的特雷彻·柯林斯综合征。
BMJ Case Rep. 2013 Dec 11;2013:bcr-2013-202425. doi: 10.1136/bcr-2013-202425.
Eur J Hum Genet. 2009 Mar;17(3):275-83. doi: 10.1038/ejhg.2008.221. Epub 2008 Dec 24.
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Treacher Collins syndrome: unmasking the role of Tcof1/treacle.特雷彻·柯林斯综合征:揭示Tcof1/treacle的作用
Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi: 10.1016/j.biocel.2008.10.026. Epub 2008 Nov 5.
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Prosthetic management of a patient with Treacher Collins syndrome.
Indian J Dent Res. 2006 Apr-Jun;17(2):78-81. doi: 10.4103/0970-9290.29886.
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Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.特雷彻-柯林斯综合征的眼部特征及视觉预后
Br J Ophthalmol. 1993 Oct;77(10):642-5. doi: 10.1136/bjo.77.10.642.
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Ear surgery in Treacher Collins syndrome.
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Mandibulofacial dysostosis. Case report.
Aust Dent J. 1995 Feb;40(1):39-42. doi: 10.1111/j.1834-7819.1995.tb05612.x.
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Craniofacial morphology in Treacher Collins syndrome.特雷彻·柯林斯综合征的颅面形态学
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