Results 21 to 30 of about 55,299 (297)
Joubert syndrome type I: neuroimaging findings in addition to the 'molar tooth' sign.
BMJ Case Rep, 2010 A 6-month-old male infant was referred to our institute for evaluation of abnormal eye movements and delayed development. The infant had no breathing abnormality in the neonatal period. He was born after a full-term uncomplicated pregnancy and was the first birth of a non-consanguineous marriage.
Kaur S, Kulkarni K.
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The Molar Tooth Sign of Brain Mri: A Case Report of Joubert Syndrome
Scholars Journal of Medical Case Reports, 2022 Joubert syndrome is a rare genetic disorder of autosomal recessive inheritance characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis resulting in respiratory disorders, nystagmus, hypotonia, ataxia ...
Fadoua Ijim, Mehdi El Kourchi, S. Wakrim
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‘Molar tooth’ sign in Joubert syndrome [PDF]
Pediatric Radiology, 2009 An 11-month-old girl born to nonconsanguineous parents presented with abnormal eye movements and frequent upper respiratory infections. The immediate postnatal period had been marked by respiratory distress that subsided with supportive measures. When seen she had global developmental delay, nystagmus, and limb hypotonia.
Debkrishna Mallick, Rajoo Thapa
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Chronic vomiting revealing Joubert syndrome: A case report. [PDF]
Radiol Case RepJoubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Haddar L +7 more
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Mid-brain molar tooth sign: expanding the clinical spectrum [PDF]
BMJ Case Reports, 2009 A 17-year-old male, a single child of non-consanguineous parentage, presented with non-progressive gait ataxia, which he had had since childhood. He had suffered mild perinatal hypoxic injury, not requiring prolonged intensive care. Motor milestones were acquired late; he walked independently only from the age of three and swayed while walking. Despite
J N Panicker, B Jyothi, K. Sreekumar
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Molar tooth sign: Neuroimaging characteristic of Joubert syndrome [PDF]
Neurology India, 2008 Tarun Nagpal, Sanjay Pande
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