Korean J Pediatr.
2010 Dec;53(12):1022-1025. 10.3345/kjp.2010.53.12.1022.
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea. imipenem@hanmail.net
- 2Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea.
- KMID: 1455879
- DOI: http://doi.org/10.3345/kjp.2010.53.12.1022
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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