Bernard-Soulier syndrome

Bernard-Soulier syndrome

Bernard-Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, 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.

Presentation

It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury.

Eponym

The syndrome is named after Dr. Jean Bernard and Jean Pierre Soulier.

Genetics

There are three forms:

References

External links

  • http://www.bernardsoulier.org/
  • http://www.B-SS.org
  • De Marco L, Mazzucato M, Fabris F, et al (1990). "Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex". J. Clin. Invest. 86 (1): 25–31.

See also

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