Bernard-Soulier syndrome
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| Bernard-Soulier syndrome Classification and external resources |
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| ICD-10 | D69.1 |
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| 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.
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[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]
[edit] External links
[edit] References
- ^ Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 16 (1): 46. PMID 17109744.
- ^ Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder" (subscription required). Arch. Pathol. Lab. Med. 131 (12): 1834–6. PMID 18081445.
- ^ synd/2075 at Who Named It
- ^ J. Bernard, J. P. Soulier. Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale. Semaine des hôpitaux de Paris, 1948, 24: 3217-3223.
- ^ OMIM - GIANT PLATELET SYNDROME. Retrieved on 2008-02-27.
