Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized by the complete absence of detectable fibrinogen. The causal mutations have been identified in less than 20% of the cases. The most frequently reported and often the first sign of the disorder is umbilical cord bleeding. Gum bleeding, epistaxis, hemarthrosis usually manifest in early childhood and intracerebral bleeding and splenic rupture can occur throughout life. We report two cases with umbilical cord bleeding and diagnosed as congenital afibrinogenemia in the neonatal period.
Newborn, congenital afibrinogenemia, umbilical cord hemorrhage
Article Language: Turkish English