CPLANE1 and skeletal dysplasia: The homozygous genetic mutation in the CPLANE1 gene confirmed the diagnosis of JS; most cases in the literature are associated with either OFDS or a mild phenotype of JS, the authors are not aware of a link between Joubert-Plus syndrome with cephalocele and this relatively new gene mutation, especially in the absence of other features of OFDS and skeletal dysplasia which are not present in our two patients.