Abstract:Thanatophoric dysplasia (TD) is a rare and lethal skeletal dysplasia caused by a de novo mutation in the fibroblast growth factor receptor 3 gene (FGFR3), with a frequency range of 1 in 20,000 to 50,000. We report a case of a 19-year-old primigravida from rural Nepal who presented with ultrasonographic findings suggestive of TD at 26 weeks and three days of gestation. The pregnancy was terminated due to the lethal nature of the condition. Accurate prenatal diagnosis and comprehensive counselling are paramount … Show more
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