HEREDITARY THROMBOPHILIA IN A FAMILY WITH 3 INDEPENDENT PROTEIN-S ANDPROTEIN-C MUTATIONS - A CAUSE OF ADVERSE PERINATAL OUTCOME

A non-related couple with two independent protein S and a protein C mu tation had two of their three children suffering from severe thrombosi s resulting in neonatal death of the firstborn. With prenatal testing an accurate prediction of phenotype was possible for the second child but the third infant was more severely affected than had been predicte d from the genotype. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.