Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

2004 ◽  
Vol 131A (3) ◽  
pp. 318-319 ◽  
Author(s):  
Benjamin D. Lemire ◽  
J.R. Buncic ◽  
Shelley J. Kennedy ◽  
Sarah J. Dyack ◽  
Ahmad S. Teebi
2016 ◽  
Vol 8 (6) ◽  
pp. 750-753 ◽  
Author(s):  
Sudesh Prabhu ◽  
Scott Fox ◽  
Adrian Mattke ◽  
Jane E. Armes ◽  
Nelson Alphonso

We describe an infant with congenital mydriasis, patent ductus arteriosus (PDA), pulmonary hypertension, and cystic lung disease. She had all the major components of multisystemic smooth muscle dysfunction syndrome. Due to progressive respiratory deterioration, she required surgical PDA interruption, extracorporeal life support, and subsequent prolonged respiratory support. Genetic testing revealed ACTA2 R179H mutation and cystic lung disease on biopsy.


2009 ◽  
Vol 44 (11) ◽  
pp. 2096-2100 ◽  
Author(s):  
Koji Komori ◽  
Shoichiro Kamagata ◽  
Seiichi Hirobe ◽  
Miki Toma ◽  
Kenji Okumura ◽  
...  

2015 ◽  
Vol 167 (6) ◽  
pp. 1354-1361.e2 ◽  
Author(s):  
Afif EL-Khuffash ◽  
Adam T. James ◽  
John David Corcoran ◽  
Patrick Dicker ◽  
Orla Franklin ◽  
...  

2005 ◽  
Vol 53 (1) ◽  
pp. 61-64 ◽  
Author(s):  
M. Duan ◽  
L. Wang ◽  
Y. Cao ◽  
Z. Li ◽  
W. Yang ◽  
...  

2003 ◽  
Vol 42 (3) ◽  
pp. 251-261 ◽  
Author(s):  
Elisabeth Horak ◽  
Johannes Bodner ◽  
Ingmar Gassner ◽  
Thomas Schmid ◽  
Burkhard Simma ◽  
...  

2015 ◽  
Vol 57 (2) ◽  
pp. 253-257 ◽  
Author(s):  
Ikuko Hama ◽  
Shigehiro Takahashi ◽  
Tomoo Nakamura ◽  
Yushi Ito ◽  
Kazuteru Kawasaki ◽  
...  

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