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.
References
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