Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome

European Journal of Obstetrics and Gynecology and Reproductive Biology

Volumn 80, Issue 2, 1998, Pages 283-285

  Schild, Ralf L ^a,b   Lobb, Mike O ^a   Voke, Jennifer M ^a  

^a LUTON AND DUNSTABLE HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Neonatal thrombosis; Pregnancy outcome; Prenatal diagnosis; Protein C and S mutations

Indexed keywords

MUTANT PROTEIN; PROTEIN C; PROTEIN S;

ADULT; ARTICLE; CASE REPORT; FEMALE; FETUS; GENETIC DISORDER; GENOTYPE; HUMAN; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THROMBOPHILIA; THROMBOSIS;

EID: 0032189797     PISSN: 03012115     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-2115(98)00145-6     Document Type: Article

References (7)

1. [1] Formstone CJ, Hallam PJ, Tuddenham EGD, et al. Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation. Blood 1996;87(9):3731-7.
2. [2] Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost 1995;73(1):87-93.
3. [3] Trauscht-Van Horn JJ, Capeless EL, Easterling TR, et al. Pregnancy loss and thrombosis with protein C deficiency. Am J Obstet Gynecol 1992;167(4,1):968-72.
4. [4] Bertault D, Mandelbrot L, Tchobroutsky C, et al. Unfavourable pregnancy outcome associated with congenital protein C deficiency. Case reports. Br J Obstet Gynaecol 1991;98:934-6.
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7. [7] Minford AMB, Parapia LA, Stainforth C, et al. Treatment of homozygous protein C deficiency with subcutaneous protein C concentrate. Br J Haematol 1996;93:215-6.