One case (case 8) of TMEM67 mutations was diagnosed as JS by prenatal MRI with typical MTS, CV absence, posterior fossa dilation, ventriculomegaly, and polycystic kidneys, and as Dandy–Walker syndrome by prenatal ultrasound with typical MTS (retrospective analysis), most of CV absence, and polycystic kidneys. The gene discussed is TMEM67; the disease is polycystic kidney disease.