Literature DB >> 3189399

Trisomy 18 associated with ectopia cordis and occipital meningocele.

D Bick1, R I Markowitz, A Horwich.   

Abstract

A premature infant presented with ectopia cordis, occipital meningocele, and manifestations of trisomy 18; cytogenetic analysis confirmed a 47,XX,+18 chromosome constitution. While most cases of ectopia cordis appear as isolated, sporadic defects, careful evaluation is warranted to detect evidence of an associated chromosome abnormality.

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Mesh：

Year:  1988        PMID： 3189399     DOI： 10.1002/ajmg.1320300313

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

Review 1.  Cantrell's pentalogy. Report of four cases and their management.

Authors:  M S Fernández; A López; J J Vila; J Lluna; J Miranda
Journal:  Pediatr Surg Int       Date:  1997-07       Impact factor: 1.827

2.  A 'One in a million' case of pulsating thoracoabdominal mass.

Authors:  Lay Ong Tan; Soo Yen Lim; Farhana Sharif
Journal:  BMJ Case Rep       Date:  2012-11-11

3.  Ectopia cordis associated with Cantrell's pentalogy.

Authors:  Basant Kumar; Chetan Sharma; Devendra D Sinha
Journal:  Ann Thorac Med       Date:  2008-10       Impact factor: 2.219

4.  Extrathoracic heart in northern Cameroon: a case report.

Authors:  Tantchou Tchoumi Jacques Cabral; Alessandro Giamberti; Gianfranco Butera; Alessandro Frigiola; Ambassa Jean Claude
Journal:  Pan Afr Med J       Date:  2009-06-10

Review 5.  Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach.

Authors:  Jeroen H L van Hoorn; Rob M J Moonen; Clément J R Huysentruyt; L W Ernest van Heurn; Jos P M Offermans; A L M Twan Mulder
Journal:  Eur J Pediatr       Date:  2007-08-04       Impact factor: 3.183

6.  Complete Ectopia Cordis: A Case Report and Literature Review.

Authors:  Simon Pius; Halima Abubakar Ibrahim; Mustapha Bello; Mohammed Bashir Tahir
Journal:  Case Rep Pediatr       Date:  2017-04-19

7.  Cantrell Syndrome-A Rare Complex Congenital Anomaly: A Case Report and Literature Review.

Authors:  Claudiu Mărginean; Cristina Oana Mărginean; Liliana Gozar; Lorena Elena Meliţ; Horaţiu Suciu; Horea Gozar; Andrada Crişan; Manuela Cucerea
Journal:  Front Pediatr       Date:  2018-07-17       Impact factor: 3.418
  7 in total

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