Joubert Syndrome and related disorders
نویسندگان
چکیده
منابع مشابه
Joubert Syndrome and related disorders
Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, ma...
متن کاملCLINICAL REPORT Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
A. Poretti T.A.G.M. Huisman I. Scheer E. Boltshauser SUMMARY: VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were va...
متن کاملJoubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.
VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were norm...
متن کاملJoubert syndrome.
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement...
متن کاملNPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
J oubert syndrome (JS) is an autosomal recessive disorder presenting with congenital hypotonia evolving into ataxia, developmental delay, and either oculomotor apraxia or abnormalities of respiratory pattern or both. JS is characterised, using magnetic resonance imaging (MRI), by cerebellar vermian hypoplasia and a complex brain stem malformation called the ‘‘molar tooth sign’’ (MTS), consistin...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2010
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-20