(zhoo-bār´) an autosomal recessive syndrome consisting of partial or complete agenesis of the cerebellar vermis, with hypotonia, episodic hyperpnea, mental retardation, and abnormal eye movements; most patients die in infancy.
Found on http://www.encyclo.co.uk/local/21001
An extremely rare birth defect in which the cerebellar vermis is missing or underdeveloped. The brain stem in not properly developed either. The cerebellar vermis is the part of the brain that is responsible for controlling balance and coordination. Common symptoms of Joubert syndrome include abnormal breathing, unusual eye movements, unusual tongu
Found on http://www.pregnology.com/AZ/J/1
Type: Term Pronunciation: zhū′bār Definitions: 1. agenesis of the cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.
Found on http://www.medilexicon.com/medicaldictionary.php?t=88158
Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. ==Diagnosis== The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign). The most common features include ataxia (lack of muscle control), hy
Found on http://en.wikipedia.org/wiki/Joubert_syndrome
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