Hematological findings in Noonan syndrome
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
;
58(1): 5-8, Jan.-Feb. 2003. tab
Artículo
en Inglés
| LILACS
| ID: lil-335223
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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Trastornos de la Coagulación Sanguínea
/
Síndrome de Noonan
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Inglés
Revista:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Asunto de la revista:
Medicina
Año:
2003
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
University of São Paulo/BR
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