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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 L, Maria +6 more
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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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The Molar Tooth Sign of Joubert Syndrome
Archives of Neurology, 2007Jyoti, Kumar +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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Clinical Syndromes or Ciliopathies Associated With Molar Tooth Sign
Pediatric Neurology, 2014Dirik, Eray +2 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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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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