FGFR3 and thanatophoric dysplasia type 1: In family 5, the fetus exhibited characteristic features of thanatophoric dysplasia type I (TDI) (OMIM #186700), including shortened and bowed long bones, also known as a “telephone-receiver like deformity.” The candidate variant (Ser249Cys) which was identified in the gene FGFR3, is one of five known disease-causing variants associated with thanatophoric dysplasia type I, thereby leading to a diagnosis [36,48].