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Hematological findings in Noonan syndrome

Bertola, Débora R ; Carneiro, Jorge David A ; D'Amico, Elbio Antônio ; Kim, Chong A ; Albano, Lilian Maria José ; Sugayama, Sofia M M ; Gonzalez, Claudette H

Revista do Hospital das Clinicás, 2003-01, Vol.58 (1), p.5-8

Brazil: Faculdade de Medicina / Universidade de São Paulo - FM/USP

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Título:
Hematological findings in Noonan syndrome
Autor: Bertola, Débora R ; Carneiro, Jorge David A ; D'Amico, Elbio Antônio ; Kim, Chong A ; Albano, Lilian Maria José ; Sugayama, Sofia M M ; Gonzalez, Claudette H
Assuntos: Adolescent ; Adult ; Blood Coagulation Disorders - blood ; Blood Coagulation Disorders - complications ; Child ; Child, Preschool ; Factor XI Deficiency - complications ; Female ; Hemorrhagic Disorders - etiology ; Humans ; Infant ; Male ; MEDICINE, GENERAL & INTERNAL ; Noonan Syndrome - blood ; Noonan Syndrome - complications
É parte de: Revista do Hospital das Clinicás, 2003-01, Vol.58 (1), p.5-8
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. An abnormal laboratory result was observed in 9 patients (30%). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30% in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder.
Editor: Brazil: Faculdade de Medicina / Universidade de São Paulo - FM/USP
Idioma: Inglês;Português

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Hematological findings in Noonan syndrome

Bertola, Débora R ; Carneiro, Jorge David A ; D'Amico, Elbio Antônio ; Kim, Chong A ; Albano, Lilian Maria José ; Sugayama, Sofia M M ; Gonzalez, Claudette H

Brazil: Faculdade de Medicina / Universidade de São Paulo - FM/USP

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