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Introduction: Joubert syndrome(JS) is a ciliopathy defined primarily by typical cerebellar defect (hypoplasia of the cerebellar vermis) and ocular motility defects1. It is an autosomal recessive, or X -linked disease2. Exhibit the pathognomonic sign "molar tooth" as well as hypotonia, renal3, hepatic and pulmonary changes, and mental retardation4. The clinically heterogeneous disease and correlate with 17 genes identified. Estimates of incidence vary between 1:80.000 and 1:100.000 live births5. Phenotype variability complicates the diagnosis6. The differential diagnosis should include: isolated nephronophthisis and syndromes like Senior- Loken , Bardet - Biedl and Meckel7 . Objective: To present a case with the diagnosis of JS in two dizygotic twin sisters. Case description: Twin 1, female, two years old, with an initial complaint of episodes accompanied cephalic version of ipsilateral gaze deviation from four months of life. Evolved with delayed psychomotor development, has coloboma of choroid and change pigmentation temporal retina bilaterally, delayed language acquisition and ataxia. The twin 2, presented the same clinical course, with episodes of ipsilateral ocular and cephalic version, with the same chronological age. In addition delayed psychomotor development, language acquisition and ataxia. Evidenced by examination with coloboma of choroid and change pigmentation temporal retina bilaterally. The diagnosis was possible by MRI demonstrated enlargement of the superior cerebellar peduncle in both patients. Conclusion: The syndrome should be considered in all children with abnormal eye movements, delayed psychomotor development8 and ataxia. The identification of genetic mutations allows early prenatal diagnosis9, while fetal neuroimaging remains unchanged until the second trimester10.

JOUBERT SYNDROME; MOLAR TOOTH; CEREBELLAR HYPOPLASIE; FMABC