TSEN54 and arthrogryposis: A combination of fetal ventriculomegaly, cerebellar hypoplasia, and arthrogryposis has been reported in association with mutations in genes such as KIDINS220, KIAA1109, L1CAM, PI4KA, PI4K2A, TSEN54, EXOSC3, RARS2, VRK1, and TSEN54 (genes related to neurological development rather than musculoskeletal development) [4-8].