Joubert syndrome: accuracy of neuro-radiological findings

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Joubert syndrome: the clinical and radiological findings.

Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypot...

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Joubert syndrome: magnetic resonance imaging findings

Case Report A 2.5 year old girl with motor and mental retardation, nystagmus and ataxic movements was referred to our department for a cranial magnetic resonance imaging study. She was the first child of a second degree consanguineous marriage. The parents also informed that she had abnormal eye movements and delayed neurologic development. She was diagnosed in another medical center as having ...

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Joubert syndrome: Clinical and radiological characteristics of nine patients

BACKGROUND Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in...

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[Radiological findings in Currarino syndrome].

OBJECTIVE To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images. MATERIAL AND METHODS A study was made of 8 out of 9 family members (the parents...

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Radiological findings in Wolfram syndrome.

OBJECTIVE To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinical evaluation. METHODS Sixteen patients (6 males and 10 females) with WFS found in 4 families were included in this study. Fourteen patients with WFS-2 came from 3 families while 2 patients with WFS-1 from one fam...

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ژورنال

عنوان ژورنال: Journal of Pediatric Neurology

سال: 2015

ISSN: 1304-2580,1875-9041

DOI: 10.1055/s-0035-1557188