Abstract
This study describes clinical features of Noonan syndrome and gene mutations, including PTPN11, SOS1, and BRAF in the Thai population. Widely spaced eyes were the most common finding from the digital facial analysis technology used in this study.
References
Mendez HM, Opitz JM. Noonan syndrome: A review. Am J Med Genet. 1985;21:493–506.
Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: The changing phenotype. Am J Med Genet. 1985;21:507–14.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:746–59.
Zhao Q, Okada K, Rosenbaum K, Kehoe L, Zand DJ, Sze R, et al. Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA. Med Image Anal. 2014;18:699–710.
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, et al. Noonan syndrome in diverse populations. Am J Med Genet A. 2017;173:2323–34.
Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. BMC Med Genomics. 2017;10:62.
Isojima T, Sakazume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, et al. Growth references for Japanese individuals with Noonan syndrome. Pediatr Res. 2016;79:543–8.
Pierpont ME, Digilio MC. Cardiovascular disease in Noonan syndrome. Curr Opin Pediatr. 2018;30:601–8.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70: 1555–63.
Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome: A long-term follow-up study. Arch Dis Child. 2007;92:128–32.
Acknowledgments
Antonio R. Porras and Professor Marius George Linguraru, Sheikh Zayed Institute for Pediatric Surgical Innovation, Children’s National Hospital, Washington DC for facial profile data analysis. Dr. Paul Kruszka, Medical Genetics Branch, National Human Genome Research Institute, NIH, for genetic testing.
Funding
None
Author information
Authors and Affiliations
Contributions
All authors contributed to the study design, data interpretation, drafting the article/critical review and final approval of the manuscript.
Corresponding author
Ethics declarations
Ethics Research Committee of the Faculty of Medicine, Chiang Mai University; No. PED-2559-04024 dated 9 September, 2016.
Additional information
Competing interest
None stated.
Rights and permissions
About this article
Cite this article
Boonchooduang, N., Louthrenoo, O. & Tanpaiboon, P. Noonan Syndrome in Thai Children. Indian Pediatr 57, 967–968 (2020). https://doi.org/10.1007/s13312-020-2007-3
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-020-2007-3