Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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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)
  • Received : 2010.04.16
  • Accepted : 2010.10.12
  • Published : 2010.12.15
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Abstract

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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References

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