Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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A case of thanatophoric dysplasia type I with an R248C mutation in the $FGFR3$ gene

  • Noe, Eun-Jung (Department of Pediatrics, College of Medicine, Hallym University) ;
  • Yoo, Han-Wook (Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center) ;
  • Kim, Kwang-Nam (Department of Pediatrics, College of Medicine, Hallym University) ;
  • Lee, So-Yeon (Department of Pediatrics, College of Medicine, Hallym University)
  • 투고 : 2010.04.16
  • 심사 : 2010.10.12
  • 발행 : 2010.12.15
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초록

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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참고문헌

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피인용 문헌

  1. Fibroblast growth factor (FGF) signaling in development and skeletal diseases vol.1, pp.2, 2010, https://doi.org/10.1016/j.gendis.2014.09.005
  2. Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months vol.37, pp.5, 2010, https://doi.org/10.1080/15513815.2018.1504843
  3. Implications of Fibroblast Growth Factors (FGFs) in Cancer: From Prognostic to Therapeutic Applications vol.20, pp.8, 2010, https://doi.org/10.2174/1389450120666190112145409