scholarly journals Rothmund‒Thomson syndrome with esophageal stenosis: a case report

2018 ◽  
Vol 2 (2) ◽  
Author(s):  
Jelica Vukicevic
Author(s):  
M.Cenk Haytaç ◽  
Haluk Öztunç ◽  
Ufuk Ö. Mete ◽  
Mehmet Kaya

1993 ◽  
Vol 10 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Howard S. Blaustein ◽  
Amy W. Stevens ◽  
Peter D. Stevens ◽  
Marc E. Grossman

2016 ◽  
Vol 23 (4) ◽  
pp. 218-223 ◽  
Author(s):  
Marlene Abreu ◽  
Isabel Nunes ◽  
Susana Corujeira ◽  
Marta Tavares ◽  
Eunice Trindade ◽  
...  

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Agata Michalak ◽  
Halina Cichoż-Lach ◽  
Beata Prozorow-Król ◽  
Leszek Buk ◽  
Monika Dzida

2017 ◽  
Vol 02 (01) ◽  
pp. 068-071
Author(s):  
Shagun Aggarwal

AbstractThis is a case report of a foetus which was brought for postmortem evaluation following antenatal detection of a complex cardiac defect. Presence of dysmorphism and other malformations like gut malrotation, bladder outlet obstruction, and esophageal stenosis led to suspicion of a syndromic diagnosis. Fetal karyotyping confirmed a diagnosis of Trisomy 18 (Edwards syndrome). This facilitated appropriate genetic counseling of the family and guidance for prenatal diagnosis in subsequent pregnancies.


Esophagus ◽  
2009 ◽  
Vol 6 (3) ◽  
pp. 197-200
Author(s):  
Hiroshi Nemoto ◽  
Mitsuo Saito ◽  
Kenji Hibi

2008 ◽  
Vol 43 (3) ◽  
pp. 583-585 ◽  
Author(s):  
Takahiro Saito ◽  
Kazuya Ise ◽  
Yoshinori Kawahara ◽  
Michitoshi Yamashita ◽  
Hirofumi Shimizu ◽  
...  

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