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CASE REPORT
Korean J Pediatr 2010 December;53(12) :1022-1025.
doi:https://doi.org/10.3345/kjp.2010.53.12.1022
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe (Noe EJ)1, Han Wook Yoo (Yoo HW)2, Kwang Nam Kim (Kim KN)1, So Yeon Lee (Lee SY)1
1Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea
2Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea
Corresponding Author: So Yeon Lee ,Email: imipenem@hanmail.net
Copyright © 2010 by The Korean Pediatric Society
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.
Keywords: Thanatophoric dysplasia | Fbroblast growth factor receptor 3 (FGFR3) gene
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