Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation

2020 ◽  
Vol 182 (6) ◽  
pp. 1496-1499
Author(s):  
Nikhil Raghuram ◽  
Ashish Marwaha ◽  
Mary‐Louise C. Greer ◽  
Estelle Gauda ◽  
David Chitayat
Author(s):  
Selim Kurtoğlu ◽  
Hüseyin Çaksen ◽  
Hüseyin Per ◽  
Nazmi Narin ◽  
Kazım Üzüm

AbstractA congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac defects. Two newborn infants who had ACF associated with congenital heart defect and congenital hypothyroidism are described. To the best of our knowledge the association of ACF and congenital hypothyroidism has not previously been published.


2018 ◽  
Author(s):  
Elfrida Kote Ollomani ◽  
Ada Pema

2014 ◽  
Author(s):  
Sabah Alvi ◽  
Julia Priestley ◽  
Amanda Whitehead ◽  
Jenny Walker ◽  
Talat Mushtaq

2020 ◽  
Author(s):  
Nisrine Bouichrat ◽  
Ikram Mahroug ◽  
Achwak Alla ◽  
Rouf Siham ◽  
Hanane Latrech
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