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Noonan syndrome: A review
Abstract
After an introduction dealing with the “historical evolution” of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully. The peculiar cardiac involvement deserves especial attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual‐motor disabilities, and endocrine evaluation) are also described.
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Citations
Cited by
2023 ESC guidelines for the management of cardiomyopathies
Arbelo, E., Protonotarios, A., Gimeno, J. R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C. R., Biagini, E., Blom, N. A., de Boer, R. A., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad194 · Cited by 2,844
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Souka, A. P., Krampl, E., Bakalis, S., Heath, V., & Nicolaides, K. H. (2001) · Ultrasound in Obstetrics & Gynecology · doi:10.1046/j.1469-0705.2001.00454.x · Cited by 369
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
Tartaglia, M., & Gelb, B. D. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162305 · Cited by 355
Vissers, L. E., Bonetti, M., Paardekooper Overman, J., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.115 · Cited by 75
Metadata
- Authors
- Mendez, H. M. M., Opitz, J. M., & Reynolds, J. F.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1985-07
- Volume
- 21
- Issue
- 3
- Pages
- 493-506
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1968790666
- Cited by
- 477
- References
- 0
- FWCI
- 2.92
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Noonan syndrome: A review. https://app.cochat.ai/papers/10.1002/ajmg.1320210312
- The paper
- Mendez, H. M. M., Opitz, J. M., & Reynolds, J. F. (1985). Noonan syndrome: A review. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320210312
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
