Witt D R, McGillivray B C, Allanson J E, Hughes H E, Hathaway W E, Zipursky A, Hall J G
Genetics Department, Kaiser Medical Center, San Jose, California 95119.
Am J Med Genet. 1988 Oct;31(2):305-17. doi: 10.1002/ajmg.1320310208.
The Noonan syndrome (NS) is a multiple congenital anomalies (MCA) syndrome with well-known manifestations. Excessive bleeding has been described occasionally. We report on 19 patients with NS and a bleeding diathesis. Several different defects are identified in the coagulation and platelet systems occurring singly or in combination. Clinical expression is variable. It is concluded that bleeding diatheses occur in NS at a much higher frequency than previously suspected. Consideration is given to possible relationship to underlying metabolic defects which could explain the diverse nature of the bleeding diatheses and also play a role in the pathogenesis of NS. The variety of bleeding diatheses may also reflect heterogeneity within NS. NS patients frequently undergo surgery with increased risk of bleeding. Appropriate evaluation and management is discussed. Evaluation of all NS patients and their families for bleeding disorders should provide important information about the frequency and type of bleeding diatheses which occur and perhaps help to clarify the etiology and pathogenesis of NS.
努南综合征（NS）是一种具有众所周知临床表现的多发性先天性畸形（MCA）综合征。偶尔会有出血过多的描述。我们报告了19例患有NS且有出血素质的患者。在凝血和血小板系统中发现了几种不同的缺陷，这些缺陷单独或合并出现。临床表型各异。得出的结论是，NS患者中出血素质的发生率比以前怀疑的要高得多。考虑了与潜在代谢缺陷的可能关系，这可以解释出血素质的多样性，并在NS的发病机制中起作用。出血素质的多样性也可能反映了NS内部的异质性。NS患者经常接受手术，出血风险增加。讨论了适当的评估和管理。对所有NS患者及其家属进行出血性疾病评估，应能提供有关发生的出血素质的频率和类型的重要信息，并可能有助于阐明NS的病因和发病机制。
