Thanatophoric Dysplasia: Case Report

Thanatophoric dysplasia (TD) was reported earlier in the previous publication. It is one of the most common lethal human skletal dysplasia characterized by severe dwarfism. It occurs in 3 to 4 per 100,000 live births1 and is due to autosomal dominant sporadic de novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene3 which codes for the FGFR3 transmembrane receptor expressed largely by skeletal and brain tissues in the developing fetus where it is involved with growth regulation. The FGFR3 mutation in TD leads to generalized defects and lack of endochondral ossification, with membranous ossification being less impaired1. Male and female fetuses are equally affected. Two thanatophoric case of this extremely rare occurance are reported and discussed