نتایج جستجو برای: joubert syndrome
تعداد نتایج: 622071 فیلتر نتایج به سال:
abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42. joubert syndrome (js) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...
how to cite this article: barzegar m, malaki m, sadegi-hokmabadi e. joubert syndrome with variable features: presentation of two cases. iran j child neurol. 2013 spring;7(2):43-46. abstract joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. we present two cases of this sy...
Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features. Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, develop...
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patie...
Joubert syndrome is a rare disorder characterized by hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal ocular movements, and molar tooth sign on magnetic resonance imaging (MRI). This syndrome is inherited as an autosomal recessive trait, but the molecular basis and specific chromosomal locus have not yet been identified. MRI features are the most important diagnostic criteria...
INTRODUCTION Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The diagnosis is based on brain imaging showing the "molar tooth sign" with cerebellar vermis agenesis...
Joubert syndrome is an autosomal recessive disorder characterized by congenital malformation of the cerebellum and brainstem, with abnormal decussation in the brain. Mutations in the Abelson helper integration site 1 gene, which encodes the protein AHI1, have been shown to cause Joubert syndrome. In this study, we found that mouse Ahi1 formed a stable complex with huntingtin-associated protein ...
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newbo...
In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome. Joubert syndrome is a rare neurodevelopmental disorder with malformations in cerebellum and brainstem. Many ocular abnormalities have been noted in Joubert syndrome, but the association of this syndrome with adult-onset ptosis has not been described to date. This 24-year-old Joubert patient ...
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