Publication | Closed Access
CONGENITAL FIBRINOGEN DEFICIENCY
13
Citations
15
References
1968
Year
PathologyFibrinogen DeficiencyThrombosisCongenital Fibrinogen DeficiencyHematologyCongenital DisordersCongenital Heart DefectEarly LifeBleeding DisorderHealth SciencesClinical Genetic DisordersInherited Metabolic DiseaseFibrinolysisDevelopmental AnomalyPathogenesisPediatricsHemostasisCoagulopathyMedicine
Summary A mild form of congenital fibrinogen deficiency is reported in a 9‐year‐old girl under our observation from birth. She had from early life a history of hemorrhagic syndrome with the principal features of congenital fibrinogen deficiency, but with normal clotting time and partial fibrinogen deficiency. The patient's parents, related by blood, both of Greek origin, are also affected by the same disorder in a latent form. The mildness of the hemorrhagic diathesis, especially after infancy and the better prognosis as compared to the classical afibrinogenemia is emphasized. The genetic problems of these familial cases of fibrinogen deficiency and their relation by genetic point of view with the cases of classical afibrinogenemia are discussed.
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