J Korean Soc Neonatol.
2011 Nov;18(2):374-378. 10.5385/jksn.2011.18.2.374.
Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation
- Affiliations
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- 1Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea. g-daughter@hanmail.net
- KMID: 2099216
- DOI: http://doi.org/10.5385/jksn.2011.18.2.374
Abstract
- Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.
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