Literature DB >> 2845644

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

M Maruiwa1, Y Nakamura, K Motomura, T Murakami, M Kojiro, M Kato, M Morimatsu, S Fukuda, T Hashimoto.   

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.

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Mesh:

Year:  1988        PMID: 2845644     DOI: 10.1007/bf00716995

Source DB:  PubMed          Journal:  Virchows Arch A Pathol Anat Histopathol        ISSN: 0174-7398


  26 in total

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Journal:  Am J Med Genet       Date:  1985-09

2.  Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

Authors:  J H Hersh; K S Dale; P S Gerald; F F Yen; B Weisskopf; N D Dinno
Journal:  Am J Dis Child       Date:  1985-01

3.  Cornelia de Lange syndrome in a mother and daughter.

Authors:  A Leavitt; N Dinno; C Davis
Journal:  Clin Genet       Date:  1985-08       Impact factor: 4.438

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Authors:  D Kumar; C E Blank; B L Griffiths
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

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Authors:  M R Wick; P S Simmons; J Ludwig; F Kleinberg
Journal:  Minn Med       Date:  1982-09

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Authors:  J J Yunis; N Ramsay
Journal:  Am J Dis Child       Date:  1978-02

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Authors:  B Beck; M Mikkelsen
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Pregnancy-associated plasma protein A: a possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome.

Authors:  J G Westergaard; J Chemnitz; B Teisner; H K Poulsen; L Ipsen; B Beck; J G Grudzinskas
Journal:  Prenat Diagn       Date:  1983-07       Impact factor: 3.050

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  A possible clinical implication of homozygous inversions of 9qh regions with Cornelia de Lange syndrome (CLS).

Authors:  K A Babu; R S Verma; J Rodriguez; W Rosenfeld; R C Jhaveri
Journal:  Hum Hered       Date:  1985       Impact factor: 0.444

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  10 in total

Review 1.  renal tumors and tumor-like lesions in pediatric patients.

Authors:  J M Kissane; L P Dehner
Journal:  Pediatr Nephrol       Date:  1992-07       Impact factor: 3.714

Review 2.  Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Authors:  Samantha A Schrier; Ilana Sherer; Matthew A Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D Kline; Linda Ernst; Kathleen Loomes; Ian D Krantz; Laird G Jackson
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

3.  Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Authors:  Muriel Holder-Espinasse; Aleksander Jamsheer; Fabienne Escande; Joris Andrieux; Florence Petit; Anna Sowinska-Seidler; Magdalena Socha; Anna Jakubiuk-Tomaszuk; Marion Gerard; Michèle Mathieu-Dramard; Valérie Cormier-Daire; Alain Verloes; Annick Toutain; Ghislaine Plessis; Philippe Jonveaux; Clarisse Baumann; Albert David; Chantal Farra; Estelle Colin; Sébastien Jacquemont; Annick Rossi; Sahar Mansour; Neeti Ghali; Anne Moncla; Nayana Lahiri; Jane Hurst; Elena Pollina; Christine Patch; Joo Wook Ahn; Anne-Sylvie Valat; Aurélie Mezel; Philippe Bourgeot; David Zhang; Sylvie Manouvrier-Hanu
Journal:  Eur J Hum Genet       Date:  2019-01-08       Impact factor: 4.246

4.  Infantile hemangioendothelioma.

Authors:  R C Parmar; S B Bavdekar; S S Borwankar; M N Muranjan; A Shenoy
Journal:  Indian J Pediatr       Date:  2001-05       Impact factor: 1.967

Review 5.  Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.

Authors:  R H Scott; C A Stiller; L Walker; N Rahman
Journal:  J Med Genet       Date:  2006-05-11       Impact factor: 6.318

Review 6.  Cornelia de Lange syndrome, cohesin, and beyond.

Authors:  J Liu; I D Krantz
Journal:  Clin Genet       Date:  2009-10       Impact factor: 4.438

Review 7.  Infantile hepatic hemangioma: current state of the art, controversies, and perspectives.

Authors:  Nikolaos Zavras; Anastasia Dimopoulou; Nikolaos Machairas; Anna Paspala; George Vaos
Journal:  Eur J Pediatr       Date:  2019-11-22       Impact factor: 3.183

8.  Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Anne L Calof; Rosaysela Santos; Martha E Lopez-Burks; Clint M Young; Michelle P Hoang; Abigail Chua; Taotao Lao; Mark S Lechner; Jeremy A Daniel; Andre Nussenzweig; Leonard Kitzes; Kyoko Yokomori; Benedikt Hallgrimsson; Arthur D Lander
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

9.  Sister chromatid cohesion defects are associated with chromosome instability in Hodgkin lymphoma cells.

Authors:  Babu V Sajesh; Zelda Lichtensztejn; Kirk J McManus
Journal:  BMC Cancer       Date:  2013-08-20       Impact factor: 4.430

10.  Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

Authors:  Claudia Santoro; Andrea Apicella; Fiorina Casale; Angela La Manna; Martina Di Martino; Daniela Di Pinto; Cristiana Indolfi; Silverio Perrotta
Journal:  BMC Cancer       Date:  2016-06-13       Impact factor: 4.430

  10 in total

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