digeorge anomaly
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Author(s):  
Sonia Joychan ◽  
Panida Sriaroon
Keyword(s):  

Author(s):  
Sonia Joychan ◽  
Panida Sriaroon
Keyword(s):  

2015 ◽  
Vol 135 (2) ◽  
pp. AB10 ◽  
Author(s):  
Noah O. Agada ◽  
Suellen M. Yin ◽  
Jonathan S. Tam ◽  
Matthew S. Kelly ◽  
M. Louise Markert

2014 ◽  
Vol 15 (7) ◽  
pp. e321-e326 ◽  
Author(s):  
Jan Hau Lee ◽  
M. Louise Markert ◽  
Christoph P. Hornik ◽  
Elizabeth A. McCarthy ◽  
Stephanie E. Gupton ◽  
...  

2013 ◽  
Vol 173 (1) ◽  
pp. 140-149 ◽  
Author(s):  
I. K. Chinn ◽  
J. D. Milner ◽  
P. Scheinberg ◽  
D. C. Douek ◽  
M. L. Markert

2013 ◽  
Vol 131 (2) ◽  
pp. AB196
Author(s):  
Ivan Chinn ◽  
Joshua D. Milner ◽  
Phillip Scheinberg ◽  
Daniel Douek ◽  
M. Louise Markert

2012 ◽  
Vol 23 (1) ◽  
pp. 14-17 ◽  
Author(s):  
Maria L. Dentici ◽  
Silvia Placidi ◽  
Paola Francalanci ◽  
Rossella Capolino ◽  
Gabriele Rinelli ◽  
...  

AbstractAim/objectiveSeveral studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis.MethodsWe report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes.ResultsThe patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy.ConclusionMaternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.


2011 ◽  
Vol 56 (6) ◽  
pp. 866-870 ◽  
Author(s):  
C. P. Hornik ◽  
M. E. Hartman ◽  
M. L. Markert ◽  
A. J. Lodge ◽  
I. M. Cheifetz ◽  
...  

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