Bernard-Soulier syndrome

From Wikipedia, the free encyclopedia

Bernard-Soulier syndrome
Classification and external resources
ICD-10 D69.1
ICD-9 287.1
OMIM 231200
DiseasesDB 1356
eMedicine ped/230 
MeSH D001606

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.

Contents

[edit] Presentation

It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury. [2]

[edit] Eponym

The syndrome is named after Dr. Jean Bernard and Jean Pierre Soulier.[3][4]

[edit] Genetics

There are three forms:[5]

Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance.
Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance.

[edit] External links

[edit] References

  1. ^ Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 16 (1): 46. PMID 17109744. 
  2. ^ Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder" (subscription required). Arch. Pathol. Lab. Med. 131 (12): 1834–6. PMID 18081445. 
  3. ^ synd/2075 at Who Named It
  4. ^ J. Bernard, J. P. Soulier. Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale. Semaine des hôpitaux de Paris, 1948, 24: 3217-3223.
  5. ^ OMIM - GIANT PLATELET SYNDROME. Retrieved on 2008-02-27.

[edit] See also