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Early Second-Trimester Molar Tooth Sign
Fetal Diagnosis and Therapy, 2014Molar tooth sign (MTS) is pathognomonic for Joubert syndrome (JS) and related disorders. We report a case in which MTS was suspected in an ‘at risk' patient at 16 weeks' gestation by sonography and at 18 weeks by additional ultrasound. It was then confirmed at 20 weeks by MRI.
Ori Shen +3 more
semanticscholar +4 more sources
A 15-year-old boy with snoring and molar tooth sign.
Chest, 2015A 15-year-old boy presented for evaluation of snoring and sleep-disordered breathing. The parents noted that the patient snored every night and that he had episodes when he stopped breathing, ending with gasping for air.
K. El-Kersh, E. Senthilvel
semanticscholar +4 more sources
Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.
The CerebellumWe report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks and 6 days of gestation, fetal ultrasound revealed a normally shaped but hyperechogenic cerebellum with all supratentorial structures appearing normal.
Miguel Pereira-Macedo +4 more
semanticscholar +3 more sources
Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance
Journal of Child Neurology, 1999Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and truncal ataxia. We previously described key ocular motor signs in Joubert syndrome and the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis.
B. Maria +6 more
semanticscholar +3 more sources
The molar tooth sign is pathognomonic for Joubert syndrome!
Pediatric Neurology, 2014A. Poretti, E. Boltshauser, E. Valente
semanticscholar +7 more sources
Neurology, 2008
Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging.
M. Zaki +10 more
semanticscholar +4 more sources
Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging.
M. Zaki +10 more
semanticscholar +4 more sources
Clinical syndromes or ciliopathies associated with molar tooth sign.
Pediatric Neurology, 2014U. Yiş, M. Dirik, E. Dirik
semanticscholar +5 more sources
Joubert syndrome with the decaying molar tooth sign: report of 2 cases.
Acta Neurologica BelgicaF. Scortegagna +4 more
semanticscholar +3 more sources
Neuroradiology, 2017