Pacault M et al. tested fifty-nine cases with ultrasound findings suggestive of skeletal dysplasia, resulting in the detection of nineteen cases with the FGFR3 c.1138G>A mutation and one case with the rarer c.1138G>C mutation, both associated with achondroplasia [131]. The gene discussed is FGFR3; the disease is achondroplasia.