A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.
10.3345/kjp.2010.53.12.1022
- Author:
Eun Jung NOE
1
;
Han Wook YOO
;
Kwang Nam KIM
;
So Yeon LEE
Author Information
1. Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea. imipenem@hanmail.net
- Publication Type:Case Report
- Keywords:
Thanatophoric dysplasia;
Fbroblast growth factor receptor 3 (FGFR3) gene
- MeSH:
Arm;
Chromosomes, Human, Pair 4;
DNA;
Dwarfism;
Extremities;
Femur;
Forehead;
Head;
Macrocephaly;
Molecular Biology;
Receptor, Fibroblast Growth Factor, Type 3;
Thanatophoric Dysplasia;
Thorax
- From:Korean Journal of Pediatrics
2010;53(12):1022-1025
- CountryRepublic of Korea
- Language:English
-
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.
