Witt D R, Hoyme H E, Zonana J, Manchester D K, Fryns J P, Stevenson J G, Curry C J, Hall J G
Genetics Department, Kaiser Permanente, San Jose, California.
Am J Med Genet. 1987 Aug;27(4):841-56. doi: 10.1002/ajmg.1320270412.
The Noonan syndrome (NS) is a true multiple congenital anomalies (MCA) syndrome with numerous manifestations. An association with lymphedema has been noted, but its pathogenesis is not fully understood. Nine new cases and a review of the literature explore the role of lymphedema in NS, including its pathogenesis, presentations, and phenotypic effects. Consideration is given to developmental stage at time of onset, chronicity, resolution, and anatomic site. It appears likely that lymphedema is a much more frequent concomitant in NS than previously realized. The major source of lymphedema in NS appears to be a presently undefined dysplasia of lymphatic vessels of unknown cause. Further study of lymphedema may provide an understanding of its role in shaping the NS phenotype. Comparison with other MCA syndromes and animal models is made in this regard. Relevance to prenatal diagnosis and treatment is discussed.
努南综合征（NS）是一种具有多种表现的真正的多发性先天性异常（MCA）综合征。已注意到其与淋巴水肿有关，但其发病机制尚未完全明确。九个新病例及文献综述探讨了淋巴水肿在NS中的作用，包括其发病机制、表现及表型效应。考虑了发病时的发育阶段、慢性病程、缓解情况及解剖部位。淋巴水肿在NS中似乎比之前认识到的更为常见。NS中淋巴水肿的主要来源似乎是目前原因不明的淋巴管发育异常。对淋巴水肿的进一步研究可能有助于了解其在塑造NS表型中的作用。在这方面与其他MCA综合征及动物模型进行了比较。还讨论了其与产前诊断和治疗的相关性。
