A characteristic image in Joubert syndrome: molar tooth sign [PDF]
The Pan African Medical Journal, 2015 Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities.
Mouna Sghir, Wassia Kesomtini
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Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants [PDF]
BMC Medical Genomics, 2021 Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions.
Chunyan Chen +5 more
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“Mini Molar Tooth” Sign in POLR3B ‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy [PDF]
Movement Disorders Clinical PracticeDonald L Gilbert +2 more
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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome [PDF]
Case Reports in Pediatrics, 2015 We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev +4 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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Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report [PDF]
Radiology Case ReportsJoubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD +2 more
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Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges [PDF]
Clinical Case ReportsJoubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened ...
Ahmed Alshafei Elmahi Ahmed +10 more
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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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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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