The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegment...

PURPOSE Joubert syndrome is a genetic disorder characterized by hypoplasia of the midline cerebellum and deficiency of crossed connections between neural structures in the brain stem that control eye movements. The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome. METHODS Eye movements were recorded in response to stationary stimuli and stimuli d...

Joubert syndrome (OMIM 213 300) is a rare autosomal recessive disorder, whose locus is on chromosome 9q; it is characterized by ataxia, psychomotor retardation, ocular and respiratory abnormalities related to dysgenesis of cerebellar vermis and mesencephalon. It is currently included in the malformation spectrum of cerebello-oculorenal syndromes (CORS)1. An image known as a “molar tooth sign” i...

The patient was an 8-month-old boy who was the product of a full-term and uncomplicated pregnancy. He had a remarkable family history with the presence of the same clinical course in a cousin, who was not clearly diagnosed as having Joubert Syndrome. He had apnea episodes, truncal ataxia, pendular nystagmus and mentalmotor developmental delay. He had a normal vestibuloocular reflex based on hea...

Joubert syndrome is an autosomal recessive disorder characterized by a variable combination of mental retardation, cerebellar ataxia, episodic hyperpnea, eye movement abnormalities, generalized hypotonia, and the molar-tooth sign visible on brain imaging. The number of reported cases has been escalating escalating all over the world since the description of the syndrome by the late French neuro...

BACKGROUND Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. CASE REPORT We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in...