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December 1965

Marfan's SyndromeHematological Abnormalities in a Family

Arch Intern Med. 1965;116(6):889-893. doi:10.1001/archinte.1965.03870060087019

ABNORMALITIES of hemostasis have been described in patients having heritable disorders of connective tissue, namely the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and Marfan's syndrome.1-20 Qualitative platelet defects have been found in osteogenesis imperfecta 13,14 and subjects with the May-Hegglin anomaly, whereas factor VIII (antihemophilic factor, AHF) deficiency has been associated with Marfan's syndrome.15,16 This report is concerned with several members of a family with Marfan's syndrome in whom morphological, functional, and biochemical abnormalities of platelets and polymorphonuclear neutrophils were observed.

Methods  Various hematological tests, namely hemoglobin determination, hematocrit, total and differential white cell counts, and platelet counts (phase contrast method) were done by routine methods. Coagulation tests included clotting time, tourniquet test, prothrombin time, prothrombin consumption, thromboplastin generation test (TGT) using platelet substitute,21 and recalcification time of platelet-rich plasma22 to estimate platelet factor 3 (thromboplastic activity). Clot retraction was estimated semiquantitatively 24 hours after blood was withdrawn.28 A few

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