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Bernard-Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy,[1], is an autosomal recessive bleeding disorder that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor which is important in clot formation.
It is a Giant Platelet Syndrome that is characterized by abnormally large platelets.
It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury. [2]
The syndrome is named after Dr. Jean Bernard and Jean Pierre Soulier.[3][4]
There are three forms:[5]
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