Any information contained in this pdf file is automatically generated from digital. Atassie congenite 070818 neurologia presentazione em. Joubert syndrome genetic and rare diseases information center. Joubert syndrome is a disorder that affects many parts of the body.
Joubert syndrome js is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging mri. Joubert syndrome is a rare, autosomal re cessive genetic transmission. Sindrome di joubert, una forma particolare di atassia congenita.
Enable javascript to view the expandcollapse boxes. The hallmark feature of joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic. Pdf joubert syndrome large clinical variability and a unique. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for joubert syndrome. Joubert syndrome genetic and rare diseases information. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as js. Joubert syndrome js is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities e.
Il testo completo di questo articolo e disponibile in pdf. Pdf linguagem, comportamento e neurodesenvolvimento na. Joubert syndrome may be caused by mutations in any of many genes. Joubert syndrome and related disorders may be caused by changes. We report 5 children 3 male and 2 female with the diagnosis of joubert syndrome by clinical and radiological.
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