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努南综合征患者出现类伯纳德-索利尔综合征血小板缺陷;病例报告

Bernard-Soulier Syndrome Like Platelet Defect in a Patient with Noonan Syndrome; A Case Report.

作者信息

Koç A, Kösecik M, Tatlı M M, Atas A, Emiroğlu H H

出版信息

Turk J Haematol. 2001 Sep 5;18(3):191-3.

Abstract

Noonan's Syndrome (NS) is characterized by dismorphic facial features, short stature, short or webbed neck, congenital heart defects and testicular abnormalities. Various bleeding disorders in Noonan Syndrome have been reported. Bernard-Soulier Syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia and giant platelets. There is not any reported case of Noonan syndrome associated with BSS in literature. We report here a four-year-old male patient with Noonan Syndrome and BSS like platelet defect.

摘要

努南综合征(NS)的特征为面部特征异常、身材矮小、颈部短或有蹼、先天性心脏缺陷和睾丸异常。已有报道称努南综合征存在多种出血性疾病。伯纳德-索利尔综合征(BSS)是一种罕见的先天性出血性疾病,其特征为血小板减少和巨大血小板。文献中尚无努南综合征合并BSS的报道。我们在此报告一名患有努南综合征和类BSS血小板缺陷的4岁男性患者。

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