Joubert, Marie

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Joubert,

Marie, 20th century Canadian neurologist.
Joubert syndrome - agenesis of the cerebellar vermis, characterized by tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.
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Marie Joubert and coworkers in 1969, for the first time described four siblings with ataxia, cognitive impairment, eye movement abnormalities, cerebellar vermis agenesis, and episodic tachypnea in a French- Canadian family.
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by cerebellar vermian hypoplasia.
Marie Joubert and coworkers (1969), for the first time described described four siblings with ataxia, cognitive impairment, eye movement abnormalities, cerebellar vermis agenesis, and episodic tachypnea in a French-Canadian family.
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