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沙阿-瓦登伯格综合征的麻醉管理：两例经验及文献综述

Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature.

作者信息

Ambi Uday S, Adarsh E S, Hatti Ramesh, Samalad Vijaymahantesh

机构信息

Department of Anaesthesiology, S N Medical College, Bagalkot, Karnataka, India.

出版信息

Saudi J Anaesth. 2012 Apr;6(2):172-4. doi: 10.4103/1658-354X.97034.

DOI:10.4103/1658-354X.97034
PMID:22754447
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3385263/
Abstract

Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah-Waardenburg syndrome and discuss them in the context of review of previously published cases.

摘要

瓦登伯革氏综合征（WS）是一种罕见的常染色体显性遗传且具有遗传异质性的神经嵴细胞发育障碍疾病。关于此类病例麻醉管理的文献有限。我们报告2例沙阿 - 瓦登伯革氏综合征病例，并结合既往已发表病例的回顾进行讨论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aacc/3385263/348f87453602/SJA-6-172-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aacc/3385263/a9fa5809b60e/SJA-6-172-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aacc/3385263/348f87453602/SJA-6-172-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aacc/3385263/a9fa5809b60e/SJA-6-172-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aacc/3385263/348f87453602/SJA-6-172-g002.jpg

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Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.一名患有瓦登伯革氏综合征患者的麻醉管理及文献综述

本文引用的文献

1
Anesthetic problems in a child with Waardenburg's syndrome and Hirschsprung's disease.一名患有瓦登伯格综合征和先天性巨结肠症儿童的麻醉问题。
J Anesth. 1996 Jun;10(2):144-146. doi: 10.1007/BF02483352.
2
Waardenburg syndrome: a report of three cases.瓦登伯格综合征：三例报告。
Indian J Dermatol Venereol Leprol. 2010 Sep-Oct;76(5):550-2. doi: 10.4103/0378-6323.69089.
3
Waardenburg syndrome associated with laryngomalacia.与先天性喉软化症相关的瓦登伯格综合征。
Turk J Anaesthesiol Reanim. 2015 Oct;43(5):360-2. doi: 10.5152/TJAR.2015.52714. Epub 2015 Aug 21.
Singapore Med J. 2009 Dec;50(12):e401-3.
4
Pudendal nerve block by nerve stimulation in a child with Waardenburg disease.在一名患有瓦登伯格综合征的儿童中通过神经刺激进行阴部神经阻滞。
Paediatr Anaesth. 2008 Dec;18(12):1267-8. doi: 10.1111/j.1460-9592.2008.02781.x.
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Fiberoptic intubation through an I-gel supraglottic airway in two patients with predicted difficult airway and intellectual disability.两名预计气道困难且有智力障碍的患者通过I-gel声门上气道进行纤维支气管镜插管。
Anesth Analg. 2008 May;106(5):1501-4, table of contents. doi: 10.1213/ane.0b013e31816f22f6.
6
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.SOX10 3'非翻译区的翻译通过产生有害功能域导致复杂的严重神经嵴病。
Hum Mol Genet. 2007 Dec 15;16(24):3037-46. doi: 10.1093/hmg/ddm262. Epub 2007 Sep 13.
7
Apnoea episodes in Hirschsprung's disease and the anaesthesia implications of neurocristopathies.先天性巨结肠症的呼吸暂停发作及神经嵴病的麻醉影响
Paediatr Anaesth. 2004 Mar;14(3):280-1. doi: 10.1046/j.1460-9592.2003.01183.x.
8
[Waardenburg's syndrome and severe cyanotic cardiopathy].[瓦登伯革氏综合征与严重青紫型心脏病]
Arch Fr Pediatr. 1990 Nov;47(9):657-9.
9
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.I型瓦登伯革氏综合征（WS）由多个基因座的缺陷引起，其中一个基因座位于2号染色体上的ALPP附近：WS联盟的首次报告。
Am J Hum Genet. 1992 May;50(5):902-13.