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可能为伴有胃肠道异常的瓦登伯革氏综合征。

Possible Waardenburg syndrome with gastrointestinal anomalies.

作者信息

Nutman J, Steinherz R, Sivan Y, Goodman R M

出版信息

J Med Genet. 1986 Apr;23(2):175-8. doi: 10.1136/jmg.23.2.175.

DOI:10.1136/jmg.23.2.175
PMID:3712396
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049577/
Abstract

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.

摘要

我们描述了一名可能患有与肛门闭锁、食管闭锁合并气管食管瘘相关的瓦登伯格综合征的患者。我们回顾了另外三例已发表的伴有胃肠道闭锁畸形且与瓦登伯格综合征相关的病例。我们得出结论，胃肠道闭锁性病变与瓦登伯格综合征之间的关联可能具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45a5/1049577/13c6a7b0c25a/jmedgene00088-0080-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45a5/1049577/e5b38c929a50/jmedgene00088-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45a5/1049577/13c6a7b0c25a/jmedgene00088-0080-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45a5/1049577/e5b38c929a50/jmedgene00088-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45a5/1049577/13c6a7b0c25a/jmedgene00088-0080-b.jpg

相似文献

1
Possible Waardenburg syndrome with gastrointestinal anomalies.可能为伴有胃肠道异常的瓦登伯革氏综合征。
J Med Genet. 1986 Apr;23(2):175-8. doi: 10.1136/jmg.23.2.175.
2
Gastrointestinal anomalies associated with esophageal atresia or tracheoesophageal fistula.与食管闭锁或气管食管瘘相关的胃肠道异常。
Arch Surg. 1979 Oct;114(10):1125-8. doi: 10.1001/archsurg.1979.01370340031004.
3
Anal atresia and the Klein-Waardenburg syndrome.
J Med Genet. 1981 Jun;18(3):239-41. doi: 10.1136/jmg.18.3.239.
4
Gastrointestinal-tract defects associated with esophageal atresia and tracheo-esophageal fistula.
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[Anesthetic management of a neonate with esophageal atresia, tracheoesophageal fistula and imperforate anus].[一例患有食管闭锁、气管食管瘘和肛门闭锁的新生儿的麻醉管理]
Rev Esp Anestesiol Reanim. 2013 Dec;60(10):589-93. doi: 10.1016/j.redar.2012.10.001. Epub 2012 Dec 20.
6
Esophageal atresia, tracheoesophageal fistula, and associated anomalies. Hyperalimentation as an aid in treatment.食管闭锁、气管食管瘘及相关畸形。胃肠外营养作为治疗辅助手段。
J Thorac Cardiovasc Surg. 1972 May;63(5):838-40.
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WAARDENBURG SYNDROME TYPE 1 AND A RARE FINDING OF ANAL ATRESIA.
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8
The Vater association; one end of a spectrum of anomalies.法特氏联合症；一系列异常情况的一端。
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Cardiovascular malformations associated with tracheoesophageal fistula and esophageal atresia.与气管食管瘘和食管闭锁相关的心血管畸形。
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The Vater association.
Am J Dis Child. 1974 Dec;128(6):767. doi: 10.1001/archpedi.1974.02110310015001.

引用本文的文献

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
Oesophageal and sternohyal muscle fibres are novel Pax3-dependent migratory somite derivatives essential for ingestion.食管和胸骨舌骨肌纤维是新型 Pax3 依赖性迁移体节衍生物，对摄食至关重要。
Development. 2013 Jul;140(14):2972-84. doi: 10.1242/dev.090050. Epub 2013 Jun 12.
3
Decrease of parafollicular thyroid C-cells in experimental esophageal atresia: further evidence of a neural crest pathogenic pathway.

本文引用的文献

1
ESOPHAGEAL ATRESIA AND TRACHEOESOPHAGEAL FISTULA. A SURVEY OF ITS MEMBERS BY THE SURGICAL SECTION OF THE AMERICAN ACADEMY OF PEDIATRICS.食管闭锁与气管食管瘘。美国儿科学会外科分会对其成员的一项调查。
Pediatrics. 1964 Oct;34:542-9.
2
Deafness as part of an hereditary syndrome.作为遗传性综合征一部分的耳聋。
J Laryngol Otol. 1959 Jun;73:355-82. doi: 10.1017/s0022215100055420.
3
[Waardenburg's syndrome. A familial case relating to 4 generations and 23 individuals].[瓦登伯革氏综合征。一个涉及四代23人的家族病例]
实验性食管闭锁中甲状腺滤泡旁C细胞的减少：神经嵴致病途径的进一步证据。
Pediatr Surg Int. 2005 Mar;21(3):175-9. doi: 10.1007/s00383-004-1315-3. Epub 2004 Nov 27.
4
Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect.Waardenburg综合征中阴道及右侧子宫附件缺如：胚胎学缺陷的一个可能线索
J Med Genet. 1988 May;25(5):355-7. doi: 10.1136/jmg.25.5.355.
Ann Genet. 1970 Jun;13(2):125-8.
4
Associated malformation with anal and rectal atresiae.
Prog Pediatr Surg. 1976;9:99-103.
5
The association of Waardenburg syndrome and Hirschsprung megacolon.瓦登伯格综合征与先天性巨结肠的关联。
Am J Med Genet. 1979;3(3):217-23. doi: 10.1002/ajmg.1320030302.
6
Hirschsprung's disease and Waardenburg's syndrome.先天性巨结肠和瓦登伯革氏综合征。
Pediatrics. 1979 May;63(5):803-5.