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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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Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
American Journal of Medical Genetics Part A, 2004Joseph G Gleeson +2 more
exaly

