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Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.

作者信息

Maruiwa M, Nakamura Y, Motomura K, Murakami T, Kojiro M, Kato M, Morimatsu M, Fukuda S, Hashimoto T

机构信息

First Department of Pathology, Kurume University School of Medicine, Japan.

出版信息

Virchows Arch A Pathol Anat Histopathol. 1988;413(5):463-8. doi: 10.1007/BF00716995.

DOI:10.1007/BF00716995
PMID:2845644
Abstract

Two cases of Cornelia de Lange syndrome associated with infantile haemangioendothelioma of the liver and Wilms' tumour are reported. The patients showed the characteristic facies of the Cornelia de Lange syndrome, with synophrys, long curly eyelashes and small upturned nose, and physical features, including generalized hirsutism, monodactyly, syndactyly and clinodactyly. Post-mortem examination revealed annular pancreas, patency of the foramen ovale, duodenal atresia and evidence of cytomegalic infection. The cases are reported to document a possible association between malformations and neoplasms in this syndrome.

摘要

相似文献

1
Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.
Virchows Arch A Pathol Anat Histopathol. 1988;413(5):463-8. doi: 10.1007/BF00716995.
2
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3
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4
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5
Infantile haemangioendothelioma of the liver--a case report.
Indian J Cancer. 1973 Mar;10(1):103-6.
6
[Bilateral Wilms' tumor associated with multiple developmental defects in a newborn infant].
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10
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本文引用的文献

1
THE CORNELIA DE LANGE SYNDROME.
J Pediatr. 1963 Nov;63:1000-20. doi: 10.1016/s0022-3476(63)80234-6.
2
TYPUS DEGENERATIVUS AMSTELODAMENSIS.阿姆斯特丹退行性类型
Arch Dis Child. 1963 Aug;38(200):349-57. doi: 10.1136/adc.38.200.349.
3
Chromosomes in the Cornelia de Lange syndrome.科妮莉亚·德·朗格综合征中的染色体。
Hum Genet. 1981;59(4):271-6. doi: 10.1007/BF00295457.
Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.
4
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.非间变性肾母细胞瘤与科妮莉亚·德·朗格综合征的罕见关联：病例报告
BMC Cancer. 2016 Jun 13;16:365. doi: 10.1186/s12885-016-2402-2.
5
Sister chromatid cohesion defects are associated with chromosome instability in Hodgkin lymphoma cells.姐妹染色单体黏合缺陷与霍奇金淋巴瘤细胞中的染色体不稳定性有关。
BMC Cancer. 2013 Aug 20;13:391. doi: 10.1186/1471-2407-13-391.
6
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.Cornelia de Lange 综合征大样本队列研究的死因和尸检结果，并文献复习。
Am J Med Genet A. 2011 Dec;155A(12):3007-24. doi: 10.1002/ajmg.a.34329. Epub 2011 Nov 8.
7
Cornelia de Lange syndrome, cohesin, and beyond.康尼氏综合征、黏连蛋白与超越黏连蛋白
Clin Genet. 2009 Oct;76(4):303-14. doi: 10.1111/j.1399-0004.2009.01271.x.
8
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.Nipbl(+/-) 小鼠，即 Cornelia de Lange 综合征模型，存在多个器官系统缺陷和转录失调。
PLoS Genet. 2009 Sep;5(9):e1000650. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18.
9
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.与肾母细胞瘤相关的综合征及先天性染色体异常。
J Med Genet. 2006 Sep;43(9):705-15. doi: 10.1136/jmg.2006.041723. Epub 2006 May 11.
10
Infantile hemangioendothelioma.婴儿型血管内皮瘤
Indian J Pediatr. 2001 May;68(5):459-61. doi: 10.1007/BF02723029.
4
Duodenal obstruction, annular pancreas, and horseshoe kidney in an infant with Cornelia de Lange syndrome.患有科妮莉亚·德朗热综合征的婴儿出现十二指肠梗阻、环状胰腺和马蹄肾。
Minn Med. 1982 Sep;65(9):539-41.
5
Gastrointestinal abnormalities in the Cornelia de Lange syndrome.
Mt Sinai J Med. 1981 May-Jun;48(3):236-40.
6
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.11号染色体短臂15区三体与贝克威思-维德曼综合征。两例报告。
Hum Genet. 1984;67(2):219-21. doi: 10.1007/BF00273006.
7
Definition and diagnosis of the Brachmann-De Lange syndrome.布-德二氏综合征的定义与诊断
Am J Med Genet. 1983 Nov;16(3):301-12. doi: 10.1002/ajmg.1320160303.
8
Recessive mutation in aetiology of Wilms' tumour.肾母细胞瘤病因中的隐性突变。
Nature. 1984;309(5964):111-2. doi: 10.1038/309111a0.
9
Genetics of Wilms' tumor.肾母细胞瘤的遗传学
Hum Genet. 1981;57(3):231-46. doi: 10.1007/BF00278936.
10
Pregnancy-associated plasma protein A: a possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome.妊娠相关血浆蛋白A：一种可能用于科妮莉亚·德·朗格综合征分类和产前诊断的标志物。
Prenat Diagn. 1983 Jul;3(3):225-32. doi: 10.1002/pd.1970030307.