Bernard-Soulier syndrome revealed by major neonatal thrombocytopenia;Syndrome de Bernard-Soulier révélé par une thrombopénie sévère en période néonatale

Archives de Pediatrie

Volumn 10, Issue 11, 2003, Pages 983-985

  Da Costa, N Pinto ^a,b   Armari Alla, C ^a   Plantaz, D ^a   Pagnier, A ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b NONE   (France)

Author keywords

Bernard Soulier syndrome; Infant, newborn; Thrombopenia

Indexed keywords

CORTICOSTEROID; DESMOPRESSIN; IMMUNOGLOBULIN; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RISTOCETIN;

ARTICLE; BERNARD SOULIER DISEASE; BLEEDING TIME; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; HUMAN; NEWBORN; NEWBORN DISEASE; PRENATAL DIAGNOSIS; RISK ASSESSMENT; THROMBOCYTE AGGREGATION; THROMBOCYTOPENIA; TREATMENT OUTCOME;

EID: 0242596672     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2003.08.006     Document Type: Article

References (11)

1. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood 1998;91:4397-418.
2. Tchernia G, Dreyfus M, Huchet J, Pinon F. Hématologie néonatale. Encycl. Méd Chir. Paris: Elsevier; 1990 13-050-A-20.
3. Bernard J, Soulier JP. Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale. Sem Hop Paris 1948;24:3217-23.
4. Bernard J. Histoire de la dystrophie hémorragipare congénitale. CR Acad Sci III: Science de la vie 1996;319:727-32.
5. Fausett B, Silver RM, Congenital disorders of platelet function. Clin Obstet Gynecol 1999;42:390-405.
6. Nurden AT. Glycoprotein defects responsible for abnormal platelet function in inherited disorders. New-York: Plenum press; 1985. p. 357-87.
7. Lopez JA. The platelet glycoprotein Ib-IX complex. Blood Coagul Fibrinolysis 1994;5:97-119.
8. de la Salle C, Lanza F, Cazenave J-P. Biochemical and molecular basis of Bernard-Soulier Syndrome: a review. Nouv Rev Fr Hématol 1995; 37:215-22.
9. Bellucci S. Thrombopathies. Encycl Méd Chir. Paris: Elsevier; 1996 13-021-A-10.
10. Poon MC, d'Oiron R, International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. Blood Coagul Fibrinolysis 2000(Suppl 1):S55-68.
11. Savoia A, Balduini C, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-5.