Hematological findings in Noonan syndrome.

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%). 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% 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.

• Authors: Débora R Bertola, Jorge David A Carneiro, Elbio Antônio D'Amico, Chong A Kim, Lilian Maria José Albano, Sofia M M Sugayama, Claudette H Gonzalez
• Journal: Revista do Hospital das Clinicas (Rev Hosp Clin Fac Med Sao Paulo) 2003 Jan-Feb Vol. 58 Issue 1 Pg. 5-8 ISSN: 0041-8781 [Print] Brazil
• PMID: 12754583 (Publication Type: Journal Article)

Topics

• Adolescent
• Adult
• Blood Coagulation Disorders (blood, complications)
• Child
• Child, Preschool
• Factor XI Deficiency (complications)
• Female
• Hemorrhagic Disorders (etiology)
• Humans
• Infant
• Male
• Noonan Syndrome (blood, complications)