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The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and\/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype\u2013phenotype correlations emerging, including the association between mutations in the <jats:italic>MKS3<\/jats:italic> gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30229","type":"journal-article","created":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T20:44:08Z","timestamp":1256849048000},"page":"326-340","source":"Crossref","is-referenced-by-count":219,"title":["Clinical and molecular features of Joubert syndrome and related disorders"],"prefix":"10.1002","volume":"151C","author":[{"given":"Melissa 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