Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis
hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as …

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Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and
eye movements, hypotonia, ataxia, developmental retardation with neuropathologic …

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar
vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth …

Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by
agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of …

PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare
autosomal recessive congenital malformation of the brainstem and cerebellar vermis …

Results Partial absence of the cerebellar vermis, hypotonia and developmental delay were
seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of …

Background: Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified
in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and …

The authors report on seven patients, six males and one female, with Joubert's syndrome
who underwent developmental evaluation, neurologic and ophthalmologic examinations …

Joubert syndrome (JS) is an autosomal‐recessive disorder, characterized by hypotonia,
ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A …