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KMID : 1130320100530121022
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Korean Journal of Pediatrics
2010 Volume.53 No. 12 p.1022 ~ p.1025
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A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
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Noe Eun-Jung
Yoo Han-Wook
Kim Kwang-Nam
Lee So-Yeon
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Abstract
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Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.
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KEYWORD
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Thanatophoric dysplasia, Fbroblast growth factor receptor 3 (FGFR3) gene
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