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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
doaj +6 more sources
Joubert Syndrome: A Molar Tooth Sign in Disguise [PDF]
Cureus, 2020 Joubert syndrome (JS) is a rare genetic ciliopathy characterized by the aplasia or malformation of the midbrain and or hindbrain structures. It usually manifests during the early stages with nonspecific neurological symptoms that progress to involve multiple systems.
Kaushal Shāh
exaly +5 more sources
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
doaj +3 more sources
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
doaj +2 more sources
Molar tooth sign − looking beyond the obvious
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
doaj +5 more sources
‘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.
Rajoo Thapa, Thapa Rajoo
exaly +3 more sources
Joubert syndrome: the molar tooth sign of the mid-brain.
Ann Med Health Sci Res, 2013 Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease.
Nag C, Ghosh M, Das K, Ghosh T.
europepmc +4 more sources
Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome)
Annals of Indian Academy of Neurology, 2011 Byju N +3 more
doaj +4 more sources
Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome [PDF]
Ultrasound in Obstetrics and Gynecology, 2011 AbstractThe characteristic imaging finding common to Joubert syndrome and related disorders is the ‘molar tooth’ sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in families with an affected child has been reported previously.
D, Pugash +6 more
exaly +3 more sources
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
doaj +2 more sources