PUMA
Istituto di Fisiologia Clinica     
Iascone M. R., Sacchelli M., Vittorini S., Giusti S. Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome?. In: Italian Heart Journal, vol. 2 (6) pp. 475 - 477. Italian Federation of Cardiology, 2001.
 
 
Abstract
(English)
A patient with a deletion in the DiGeorge/velocardiofacial chromosomal region in 22q11, underwent cardiac repair for truncus arteriosus with a separate origin of the pulmonary arteries. This patient presented with a severe coagulation disorder similar to that described in the Bernard-Soulier syndrome. Additional features included minor facial anomalies, transient hypocalcemia and renal failure. To the best of our knowledge, this is the third case of a severe bleeding disorder associated with 22q11 deletion reported in the literature.
URL: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi
Subject Bleeding disorder; Congenital heart disease; 22q11 deletion.


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