Definición de Síndrome de Bernard-Soulier

Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a rare congenital bleeding disorder characterized by thrombocytopenia and large platelets and was first described in 1948. más

Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a rare congenital bleeding disorder characterized by thrombocytopenia and large platelets and was first described in 1948. It is one of a group of hereditary platelet disorders characterized also by a tendency toward bleeding. The disorder was recognized to be familial and inherited in an autosomal recessive manner so males and females are affected with equal frequency. In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein. less