Bernard-Soulier syndrome
giant platelet syndrome

It leads to bleeding in children and is now known as the Bernard-Soulier syndrome.

The Bernard-Soulier syndrome was first discovered in 1948 as a congenital bleeding disorder.

It is deficient in the Bernard-Soulier syndrome.

Bernard gave his name to Bernard's syndrome and Bernard-Soulier syndrome.

Most cases of Bernard-Soulier syndrome are inherited as an autosomal recessive genetic trait.

Bernard-Soulier syndrome is a defect or deficiency in GPIb.

DeMars' husband died in 1995 due to complications relating to Bernard-Soulier syndrome following a sledding accident.

Bernard-Soulier syndrome (giant platelet)

The deficiency in glycoprotein Ib-IX-V complex synthesis leads to Bernard-Soulier syndrome.

Rare examples are Bernard-Soulier syndrome, Wiskott-Aldrich syndrome and Glanzmann's thrombasthenia.

This may be seen as in immune thrombocytopenic purpura (ITP), and in myeloproliferative diseases and Bernard-Soulier syndrome.

It is now used solely to assay those functions in vitro in the diagnosis of conditions such as von Willebrand disease (vWD) and Bernard-Soulier syndrome.

Hagen, I, Solum N. O. XFurther studies on the protein composition and surface structure of normal platelets and from Glanzmann's thrombasthenia and Bernard-Soulier syndrome.

Platelet disorders lead to defects in hemostasis and produce signs and symptoms from coagulation factor deficiencies such as Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin anomaly.

The Bernard-Soulier syndrome entails a deficiency of the non-integrin platelet adhesion receptor GPIb/IX and von Willebrand's disease abnormalities of von Willebrand factor.

Characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes (bone marrow platelet progenitors), and decreased platelet survival, Bernard-Soulier syndrome is associated with quantitative or qualitative defects of the platelet glycopotein complex GPIb/V/IX.