Results 271 to 280 of about 17,153 (289)
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Another case of Varadi-Papp Syndrome with a molar tooth sign
American Journal of Medical Genetics, Part A, 2005Bernard N. Chodirker +3 more
exaly +2 more sources
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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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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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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