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- W2000258916 abstract "Abstract 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." @default.
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- W2000258916 date "1987-08-01" @default.
- W2000258916 modified "2023-10-13" @default.
- W2000258916 title "Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature" @default.
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- W2000258916 doi "https://doi.org/10.1002/ajmg.1320270412" @default.
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