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.
文摘A 2-month-old girl presented facial dimorphism,including frontal bossing,hypertelorism,a broad nasal bridge,low-set ears,hypotonia with mild spasticity,and mild thrombocytopenia.Her head circumference was 40.8 cm(75-90 percentile).There was no relevant perinatal history.
基金supported by the Basic and Frontier Research Project of Chongqing (cstc2013jcyjA50013)Scientific and Technological Research Program of Chongqing Municipal Education Commission (KJ131504)the Innovation Team Building at Institutions of Higher Education in Chongqing (KJTD201325)~~
