Hematological findings in Noonan syndrome
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
; 58(1): 5-8, Jan.-Feb. 2003. tab
Article
em En
| LILACS
| ID: lil-335223
Biblioteca responsável:
BR1.1
ABSTRACT
OBJECTIVE:
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.METHOD:
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.RESULTS:
An abnormal laboratory result was observed in 9 patients (30 percent). 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.CONCLUSIONS:
Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30 percent 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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Transtornos da Coagulação Sanguínea
/
Síndrome de Noonan
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
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Child, preschool
/
Female
/
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article