Bernard-Soulier Syndrome Like Platelet Defect in a Patient with Noonan Syndrome; A Case ReportAhmet Koç1, Mustafa Kösecik2, M. Mansur Tatlı2, Ali Atas2, H. Haldun Emiroğlu21Department Of Pediatrics, Hematology Unit, Harran University Faculty Of Medicine,şanlıurfa Turkey 2Department Of Pediatrics, Harran University Faculty Of Medicine,şanlıurfa, Turkey
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. Keywords: Bernard-Soulier syndrome, Bleeding diathesis, Noonan syndrome, Platelet function.
Ahmet Koç, Mustafa Kösecik, M. Mansur Tatlı, Ali Atas, H. Haldun Emiroğlu. Bernard-Soulier Syndrome Like Platelet Defect in a Patient with Noonan Syndrome; A Case Report. Turk J Hematol. 2001; 18(3): 191-193
Corresponding Author: Ahmet Koç, Türkiye |
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