A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.
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.
Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.
Eun Jung
EJ
Noe
Han Wook
HW
Yoo
Kwang Nam
KN
Kim
So Yeon
SY
Lee
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