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Noonan syndrome.
Open accessAbstract
Noonan syndrome was first described over 20 years ago by Noonan and Ehmkel; they defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism, and unusual facies.In retrospect, the first case was probably described by Kobylinski in 1883.2Since that time, over 300 cases have been reported in medical publications.The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births.3The cardinal features of Noonan syndrome are short stature, congenital heart defect, broad or webbed neck, a peculiar chest deformity with pectus carinatum superiorly and pectus excava- tum inferiorly, and characteristic facies, which alter predictably with age to produce a discrete but changing phenotype which is described and illus- trated below.Good reviews of Noonan syndrome are to be found by Mendez and Opitz,4 Nora et al,5 Char et al,6 and Pearl.7
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Citations
Cited by
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., van der Burgt, I., Palleschi, A., Petrucci, T. C., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/499925 · Cited by 415
Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation · doi:10.1002/humu.20955 · Cited by 303
Congenital Heart Disease: Incidence and Inheritance
Hoffman, J. I. E. (1990) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(16)36830-4 · Cited by 278
Calcium signaling in vertebrate embryonic patterning and morphogenesis
Slusarski, D. C., & Pelegri, F. (2007) · Developmental Biology · doi:10.1016/j.ydbio.2007.04.043 · Cited by 178
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
Oishi, K., Gaengel, K., Krishnamoorthy, S., Kamiya, K., Kim, I.-K., Ying, H., Weber, U., Perkins, L. A., Tartaglia, M., Mlodzik, M., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi471 · Cited by 81
Metadata
- Authors
- Allanson, J. E.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1987-01
- Volume
- 24
- Issue
- 1
- Pages
- 9-13
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W4212980172
- Cited by
- 319
- References
- 0
- FWCI
- 1.59
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Allanson, J. E. (1987). Noonan syndrome. Journal of Medical Genetics. https://doi.org/10.1136/jmg.24.1.9
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