NOONAN SYNDROME - COAGULATION AND CLINICAL ASPECTS

The study aims were to review the clinical features of a group of pati ents with Noonan syndrome and to further elucidate their bleeding tend ency. Eighteen patients (12M, 6F) aged 2.6-13.3 years underwent a clin ical assessment, a questionnaire of their bleeding tendency and labora tory coagulation studies. Nine had cyanotic spells or breathing diffic ulties after birth; 11 had poor feeding or weight gain. Increased brui sing or bleeding was reported in 12 (67%), four of whom had bleeding f rom the oral cavity. Excessive bleeding was not reported from operativ e procedures in other sites. Partial thromboplastin time was prolonged in 10 (56%) associated with low levels of clotting factors, particula rly XI and XII. Bleeding times were normal; one had marginal thrombocy topenia. Coagulation results did not correlate with bruising history a nd may not predict bleeding risk. Care is required when Noonan syndrom e patients undergo surgery, particularly of the oropharynx, with immed iate availability of suitable blood products.