Jacobsen syndrome (JS) is a rare, inherited disorder, characterized by facial and skull dysmorphism, mental retardation, and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet function disorder that ...Jacobsen syndrome (JS) is a rare, inherited disorder, characterized by facial and skull dysmorphism, mental retardation, and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet function disorder that may be encountered in patients affected by JS. PTS is manifested by a mild lifelong bleeding tendency. Morphologically, the presence of large fused platelet alpha granules is characteristic. We present a case of Jacobsen syndrome in a child and highlight the typical morphologic and ultrastructure findings of platelets.展开更多
文摘Jacobsen syndrome (JS) is a rare, inherited disorder, characterized by facial and skull dysmorphism, mental retardation, and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet function disorder that may be encountered in patients affected by JS. PTS is manifested by a mild lifelong bleeding tendency. Morphologically, the presence of large fused platelet alpha granules is characteristic. We present a case of Jacobsen syndrome in a child and highlight the typical morphologic and ultrastructure findings of platelets.
