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KMID : 0438520110180020374
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Journal of the Korean Society of Neonatology
2011 Volume.18 No. 2 p.374 ~ p.378
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Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation
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Kim Sung-Woo
Park So-Eun
Jeong In-Hyuk
Yoon Jeong-Won
Lee Cho-Ae
Jeon Ji-Hyun
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Abstract
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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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KEYWORD
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Noonan syndrome, KRAS gene mutation
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