Thanatophoric Dysplasia – A Rare Case Report

Abstract

Thanatophoric dysplasia (TD) is one of the rare lethal osteochondrodysplasia. Skeletal dysplasia constitute heterogenous group of bone disorders resulting in abnormal shape and size of skeleton. The reported incidence is about 1 in 60,000 births. Here we are reporting the case of PGR with 18 weeks of gestation USG showing the fetus with short stubby long bones with widened metaphysis, large skull and frontal bossing. Ultrasonographic diagnosis was suggestive of thanatophoric dysplasia. Medical termination of pregnancy was done at 18 weeks of gestation after informed consent from affected couple.