Molar tooth sign − looking beyond the obvious

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The 'molar tooth sign' in Joubert syndrome.

The molar tooth sign is seen in very few conditions and is a very rare paediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome this is seen in about 85% of patients. We present a case of 13 months old baby boy with r...

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Joubert Syndrome: The Molar Tooth Sign of the Mid-Brain

Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease. The importance of recognizing JS is related to the outcome and its potential complicatio...

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[Molar tooth sign: a characteristic image in Joubert syndrome].

Joubert syndrome (OMIM 213 300) is a rare autosomal recessive disorder, whose locus is on chromosome 9q; it is characterized by ataxia, psychomotor retardation, ocular and respiratory abnormalities related to dysgenesis of cerebellar vermis and mesencephalon. It is currently included in the malformation spectrum of cerebello-oculorenal syndromes (CORS)1. An image known as a “molar tooth sign” i...

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ژورنال

عنوان ژورنال: South African Journal of Radiology

سال: 2013

ISSN: 2078-6778,1027-202X

DOI: 10.4102/sajr.v17i3.275