Results 131 to 140 of about 5,733 (168)
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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 S, Zaki +9 more
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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 S, Zaki +9 more
openaire +2 more sources
Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes
American Journal of Medical Genetics Part A, 2003AbstractThe Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal‐oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a “molar tooth” on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It was first
Joseph G, Gleeson +9 more
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Pediatric Neurology, 2015
We undertook diffusion tensor imaging analysis of brainstem fiber tracts in two Joubert syndrome patients.Two Joubert syndrome patients underwent magnetic resonance imaging brain examination with diffusion tensor imaging. Imaging findings were compared with five age- and sex-matched control subjects with approval from the institutional ethic committee.
Charlie Chia-Tsong Hsu +2 more
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We undertook diffusion tensor imaging analysis of brainstem fiber tracts in two Joubert syndrome patients.Two Joubert syndrome patients underwent magnetic resonance imaging brain examination with diffusion tensor imaging. Imaging findings were compared with five age- and sex-matched control subjects with approval from the institutional ethic committee.
Charlie Chia-Tsong Hsu +2 more
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Joubert\'s syndrome - The \'Molar Tooth\' and \'Bat Wing\' signs
2013Clinical History: A 5-month-old boy presented with complaints of abnormal eye movements. The parents of the child also noticed that he was unable to fixate and follow objects visually. No history of abnormal breathing pattern or seizure. Developmental history was normal. H...
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KLEEFSTRA SYNDROME: NEW MOLAR TOOTH SIGN OF MID- BRAIN?
2019Kleefstra syndrome (KS) is a rare geneticcondition with autoso-mal dominant inheritance characterized by intellectualdisability(ID), autistic-like features, childhood hypotonia, and distinctive facialfeatures. The diagnosis of KS is established on by eithera mutation in the(EHMT1) gene (rarely) or by a microdeletion inthe 9q34.3.
YAZOL, MERVE +3 more
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A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".
Genetic counseling (Geneva, Switzerland), 2009A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia": The femoral-facial syndrome (FH-UFS) is a rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and peculiar facies. We describe a new case with facial dysmorphism, broad chest and widely spaced nipples, shorter right ...
CAGLAYAN, A. O. +4 more
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Clinical Syndromes or Ciliopathies Associated With Molar Tooth Sign
Pediatric Neurology, 2014Dirik, Eray +2 more
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