A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene

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: Fbroblast growth factor receptor 3 (FGFR3) gene; Thanatophoric dysplasia.

Fig. 1

Full-body photograph acquired on the 2^nd day of life, showing large head, markedly short limbs, and narrow thorax.

Fig. 2

Newborn infantogram demonstrating thanatophoric dysplasia type I (TD1) findings, including platyspondyly, a severely hypoplastic pelvis, long bone shortness (A), hypoplasia of the lungs and thorax (B), and femoral bowing ("telephone receiver" femur) (C).

Fig. 3

DNA sequencing of the FGFR3 gene showing Arg248Cys mutation in R248C.