Koç A, Kösecik M, Tatlı M M, Atas A, Emiroğlu H H
Turk J Haematol. 2001 Sep 5;18(3):191-3.
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.
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。