Rubinstein-Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broad thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CRE
We describe a Chinese fetus with unexplained hypoplasia of the cerebellar vermis and polydactyly, detected by ultrasound imaging. The fetus was primarily diagnosed with JBTS/MKS. The parents of this f
