scholarly journals An adult case with LACHT syndrome (Mardini-Nyhan association)

2021 ◽  
Author(s):  
Mohammad esmaeil zanganehfar ◽  
Hamidreza Pouraliakbar ◽  
Maryam Shojaeifard ◽  
MohammadFaryad Mahmoudi
Keyword(s):  
Adult Patient ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Pediatric Population ◽  
Adult Case ◽  
Heart Defect

Mardini–Nyhan or LACHT (lung anomaly, congenital heart defect, and thumb anomaly) syndrome is extremely rare. The literature contains only 12 reported cases in the pediatric population. We herein describe an adult patient with this syndrome.

Congenital heart defect in sibs with discordant karyotypes

1998 ◽  
Vol 80 (2) ◽  
pp. 169-172 ◽  
Author(s):  
Maria Cristina Digilio ◽  
Bruno Marino ◽  
Salvatore A. Canepa ◽  
Umberto Borzaga ◽  
Aldo Giannotti ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Heart Defect

scholarly journals Mountain climbing of the grown-up patient with non-corrected congenital heart defect

2016 ◽  
Vol 1 ◽  
pp. 68-71
Author(s):  
Ireneusz Haponiuk ◽  
Katarzyna Gierat-Haponiuk ◽  
Dominika Szalewska ◽  
Piotr Niedoszytko ◽  
Stanisław Bakuła ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Mountain Climbing ◽  
Heart Defect
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