Mid-brain molar tooth sign: expanding the clinical spectrum
نویسندگان
چکیده
منابع مشابه
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...
متن کاملThe '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...
متن کاملStructural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.
PURPOSE We performed a retrospective study in which we investigated malformations other than brainstem and vermian dysgenesis in Joubert syndrome-related disorders (JSRD). We investigated the frequency and type of structural abnormalities that coexist with the molar tooth sign (MTS) in JSRD. MATERIALS AND METHODS We searched our archive for the years 2002-2008 in order to find patients with t...
متن کامل[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...
متن کاملA characteristic image in Joubert syndrome: molar tooth sign
Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities. It is currently included in the malformation spectrum of cerebello-oculo-renal syndromes (CORS). An image known as a "molar tooth sign" is typically observed in cereb...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2009
ISSN: 1757-790X
DOI: 10.1136/bcr.2006.099465b