Diagnostika thanatoforické dysplazie pomocí vyšetření klinického exomu -kazuistika

Abstract

We present a case of thanatophoric dysplasia. Skeletal dysplasia are a wide, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasia. The major role in diagnostics has high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.