Hematological findings in Noonan syndrome

Revista do Hospital das Clínicas
Débora R BertolaClaudette H Gonzalez

Abstract

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.

References

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Citations

Aug 2, 2012·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Cristiane Sá Roriz FontelesAdriana da Silveira
May 19, 2012·BMJ Case Reports·Paula NunesAnabela Morais
Oct 27, 2012·Endocrinology and Metabolism Clinics of North America·Elizabeth ChackoRobert Rapaport
Oct 19, 2010·American Journal of Medical Genetics. Part a·Murat DerbentNamik Özbek
Oct 21, 2011·Pediatric Blood & Cancer·Benjamin J Briggs, Joseph D Dickerman
May 19, 2017·Haemophilia : the Official Journal of the World Federation of Hemophilia·J Perez BoteroM M Patnaik
Sep 20, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Naohiro KurotakiJames R Lupski
Mar 11, 2006·Canadian Journal of Anaesthesia = Journal Canadien D'anesthésie·Joelle McBainDavid C Campbell
Dec 4, 2021·Orphanet Journal of Rare Diseases·Francesca Di CandiaDaniela Melis
Apr 23, 2014·Pediatrics·Andrea ArtoniIda Martinelli
Sep 30, 2010·Pediatrics·Alicia A RomanoJacqueline A Noonan
Jan 8, 2017·Pediatrics·Susmita N Sarangi, Suchitra S Acharya

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