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Molar tooth sign − looking beyond the obvious [PDF]
South African Journal of Radiology, 2013 The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
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Periventricular nodular heterotopias an atypical manifestation of Joubert syndrome
Nepal Journal of Neuroscience, 2021 Joubert syndrome (JS) is characterized by varying degrees of mid and hindbrain malformations. A thickened superior cerebellar peduncle (“molar tooth sign”), varying degree of cerebellar vermian clefting, and an oddly shaped (“bat-wing”) fourth ventricle ...
Himanshu Mishra, Amit Kumar
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Joubert syndrome: a case report of neonatal presentation and early diagnosis
Boletín Médico del Hospital Infantil de México, 2023 Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described.
Carla I. González-Gordillo +4 more
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When you find a tooth in the brain, call joubert for help
APIK Journal of Internal Medicine, 2020 Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Suhas Murali, Karthik Nagraj
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Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality
Journal of Bahria University Medical and Dental College, 2021 Joubert’s syndrome is a rare genetic disorder. It is an autosomal recessive neuro-developmental disorder involving mid and hind brain. This report describes a fetus at gestational age 16weeks+ 6 days, who presented with characteristic Molar tooth sign ...
Prabha Sinha, Shabnum Sibtain
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BMC Pediatrics, 2023 Background Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign”, and variable organ involvement (such as eye, kidney, liver, and ...
Qian Li +7 more
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Applied Sciences, 2021 Background: Orthopantomography (OPG) is usually used as a primary diagnostic radiological exam in the planning of third molar surgery because it is deeply available in dental clinics and has lower radiation doses compared to Cone-beam computed tomography
Young-Sam Kim +6 more
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A case of Joubert syndrome caused by novel compound heterozygous variants in the gene
Journal of International Medical Research, 2023 Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging.
Anastasiya Aleksandrovna Kozina +9 more
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Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically.
Preetam B Patil +3 more
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Rare case of a floppy neonate: Joubert syndrome
Current Medicine Research and Practice, 2021 Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures.
Kumar Ankur +4 more
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