Thrombosis and Haemostasis, Table of Contents Thromb Haemost 2004; 91(04): 819-821DOI: 10.1055/s-0037-1614269 Case Report Schattauer GmbH Congenital deficiency of vitamin K-dependent coagulation factors associated with central nervous system anomalies Authors John Puetz Al Knutsen John Bouhasin Recommend Article Abstract Buy Article(opens in new window) Full Text References References 1 McMillan CW, Roberts HR. Congenital combined deficiency of coagulation factors II, VII, IX and X. N Engl J Med 1966; 274: 1313-966. 2 Chung K, Bezeaud A, Goldsmith J. et al. Congenital Deficiency of Blood Clotting Factors II, VII, IX and X. Blood 1979; 53: 776-87. 3 Goldsmith G, Pence R, Ratnoff O. et al. Studies on a Family with Combined Functional Deficiencies of Vitamin K-dependent Coagulation Factors. J Clin Invest 1982; 69: 1253-60. 4 Vincente V, Maia R, Alberca I. et al. Congenital Deficiency of Vitamin KDependent Coagulation Factors and Protein C. Thromb Haemost 1984; 51: 343-6. 5 Pauli RM, Lian JB, Mosher DF. et al. Association of Congenital Deficiency of Multiple Vitamin K-Dependent Coagulation Factors and the Phenotype of the Warfarin Embryopathy: Clues to the Mechanism of Teratogenicity of Coumarin Derivatives. Am J Hum Genet 1987; 41: 566-83. 6 Brenner B, Tavori S, Zivelin A. et al. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Hem 1990; 75: 537-42. 7 Pechlaner C, Vogel W, Erhart R. et al. A New Case of Combined Deficiency of Vitamin K Dependent Coagulation Factors. Thromb Haemost 1992; 68: 617. 8 Boneh A, Bar-Ziv J. Hereditary Deficiency of Vitamin K-Dependent Coagulation Factors With Skeletal Abnormalities. Am J Med Genet 1996; 65: 241-3. 9 Oldenburg J, von Brederlow B, Fregin A. et al. Congenital Deficiency of Vitamin K Dependent Coagulation factors in Two Families Presents as a Genetic defect of the Vitamin K-Epoxide-Reductase-Complex. Thromb Haemost 2000; 84: 937-41. 10 Brenner B, Sanchez-Vega B, Wu S. et al. A Missense Mutation in Gamma-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors. Blood 1998; 92: 4554-9. 11 Spronk H, Farah R, Buchanan G. et al. Novel mutation in the gamma glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 2000; 96: 3650-52. 12 Fregin A, Rost S, Wolz W. et al. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. Blood 2002; 100: 3229-32. 13 Hall J, Pauli R, Wilson K. Maternal and Fetal Sequelae of Anticoagulation During Pregnancy. Am J Med 1980; 68: 122-40. 14 Pauli R, Hall J. Warfarin Embryopathy. Lancet 1979; 02: 144. 15 Menger H, Lin A, Toriello H. et al. Vitamin K Deficiency Embryopathy: A Phenocopy of the Warfarin Embryopathy Due to a Disorder of Embryonic Vitamin K Metabolism. Am J Med Genet 1997; 72: 129-34. 16 Bovill E, Soll R, Bhushan F. et al. Vitamin K1 Metabolism and the Production of Des-Carboxy Prothrombin and Protein C in the Term and Premature Neonate. Blood 1993; 81: 77-83. 17 Tejani N. Anticoagulant Therapy With Cardiac Valve Prosthesis During Pregnancy. Ob Gyn 1973; 42: 785-93. 18 Sheikhzadeh A, Ghabusi P, Hakim S. et al. Congestive Heart Failure in Valvular Heart Disease in Pregnancies With and Without Valvular Prostheses and Anticoagulation Therapy. Clin Cardiol 1983; 06: 465-70. 19 Zebboudj A, Imura M, Bostrom K. Matrix GLA protein, a regulatory Protein for Bone Morphogenetic Protein 2. J Biol Chem 2002; 227: 4388-94. 20 Tsaioun K. Vitamin K-dependent Proteins in the Developing and Aging Nervous System. Nut Rev 1999; 57: 231-40. 21 Kulman J, Harris J, Xie L. et al. Identification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. Proc Nat Acad. Sci 2001; 98: 1370-5.
