Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome?

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 22q 11 deletion reported in the literature.