Clinical and genetic characteristics of 36 children with Joubert syndrome.

Our findings indicate that early cranial imaging is helpful for the etiological diagnosis of children with unexplained developmental delay and multiple malformations. Patients with JBTS may have coexisting skin abnormalities. The gene loci of , , and were associated with JBTS in our study and provided significant information to enrich the related genetic data. Future works investigating several aspects of the association between gene and JBTS merit further investigation. The prognosis of children with pure JBTS is better than that of children with JBTS with non-neurological involvement.