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KMID : 0606620080040010021
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Korean Journal of Fetal Medicine
2008 Volume.4 No. 1 p.21 ~ p.26
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A Case of Achondroplasia Diagnosed by Prenatal Ultrasonography and Molecular Genetic Study
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Kim Yeon-Hee
Park In-Yang
Kwon Ji-Young
Ahn Hyun-Young
Kim Sa-Jin
Kim Soo-Pyung
Shin Jong-Chul
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Abstract
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Achondroplasia is the most common type of dwarfism and an autosomal dominant genetic disease. But, in 80% of
cases, it results from a new mutation in the fibroblast growth factor receptor 3 (FGFR3) gene on human chromosome
4. In fetal musculoskeletal diseases, it is often difficult to be definitely diagnosed by only antenatal ultrasonography.
Therefore, a molecular genetic study is maybe useful method for definite diagnosis of them and antenatal counselling.
We recently experienced a case of heterozygous achondroplasia confirmed by identification of a mutation on FGFR3
gene at 30 weeks of gestation and report it with the review of the literature.
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KEYWORD
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Achondroplasia, Fibroblast growth factor receptor 3, Prenatal diagnosis, Ultrasonography
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