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Bernard-Soulier syndrome (Jean Bernard)

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A familial and congenital bleeding disorder characterised by giant platelets and thrombocytopenia.

Description

A familial and congenital bleeding disorder characterised by giant platelets and thrombocytopenia. In the blood platelets there is an absence or deficiency of platelet glycoprotein-1b from the platelet membrane. The platelets are much enlarged, reduced in number and lack the ability to stick adequately to injured blood vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem there is potentially fatal haemorrhage (bleeding from the skin, muscles and visceral organs, epistaxis, and menorrhagia) is the principal clinical characteristic of this disorder. Both sexes affected. Autosomal recessive inheritance. The Bernard-Soulier gene has been mapped to the short (p) arm of chromosome 17.

Bibliography

  • J. Bernard, J. P. Soulier:
    Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale.
    Semaine des hôpitaux de Paris, 1948, 24: 3217-3223.

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