scholarly journals Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature

Cases Journal ◽  
2008 ◽  
Vol 1 (1) ◽  
Author(s):  
Ali Al Kaissi ◽  
Katharina Roetzer ◽  
Klaus Klaushofer ◽  
Franz Grill
2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Indrani S. Bhattacharya ◽  
Marc Dweck ◽  
Andrew Gardner ◽  
Mark Jones ◽  
Mark Francis

Isolated ventricular non-compaction cardiomyopathy (IVNC) is a rare, morphologically distinct primary genetic cardiomyopathy, which is now gaining prominence as an important differential diagnosis in patients presenting with cardiac failure. We describe a case report of a Nigerian male with facial dysmorphism presenting with cardiac failure. This is followed by a review of the literature with focus on the diagnosis of this condition, which may be difficult especially in non-Caucasian populations.


1999 ◽  
Vol 19 (3) ◽  
pp. 328-335
Author(s):  
Shanop Shuangshoti Shuangshoti ◽  
Samruay Shuangshoti

2015 ◽  
Vol 21 ◽  
pp. 209-210
Author(s):  
Richa Bhattarai ◽  
Bidur Dhakal ◽  
Joseph Belsky ◽  
Nadja Pedersen ◽  
Maria Jan ◽  
...  

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