B

 

 

Bernard-Soulier sendromu

Kalıtsal - AR

Pıhtılaşma sorunları

Trombosit işlevsizliği

Trombositopeni (olmayabilir)

İri trombositler

Spontan ekimozlar

Spontan dişeti kanamaları

Spontan burun ve mide kanamaları

Aşırı kanamalı-uzun süren menstrüasyon

Deri ve mukozalarda peteşiyal/purpurik kanamalar

Splenomegali

 

  • Berndt MC, Andrews RK. Bernard-Soulier syndrome. Haematologica, 96(3): 355–359, 2011

  • Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood, 91: 4397-4418, 1998

  • Nurden A, Nurden P. Advances in our understanding of the molecular basis of disorders of platelet function. Journal of Thrombosis & Haemostasis, 9 (suppl. 1): 76-91, 2011

  • Cox K, Price V, Kahr WHA. Inherited platelet disorders: a clinical approach to diagnosis and management. Expert Review of Hematology, 4: 455-472, 2011

  • Savoia A, Pastore A, De Rocco D, et al. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.Haematologica, 96(3):417-423, 2011

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Savoia A, Kunishima S, De Rocco D, et al. Spectrum of the mutations in Bernard-Soulier syndrome. Human Mutations, (9):1033-1045, 2014

  • Bragadottir G, Birgisdottir ER, Gudmundsdottir BR, et al. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. American Journal of Hematology, 90(2):149-155, 2015