Molar tooth sign: Joubert’s syndrome
نویسندگان
چکیده
A 5 year old female child from a well-monitored, full term pregnancy with no specific history of ataxia, hypotonia and global developmental delay.
منابع مشابه
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...
متن کاملJoubert 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 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...
متن کاملMolar tooth sign: neuroimaging characteristic of Joubert syndrome.
A two-year-old boy, born of non-consanguineous marriage was brought with delayed motor and language milestones. The parents had also noted abnormal eye movements and periodic breathing difficulty since early infancy. The child was third of three sibs and the other two sibs were normal. On examination, the child was hypotonic and mentally retarded and had severe truncal ataxia and oculomotor apr...
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ژورنال
عنوان ژورنال: Journal of clinical images and medical case reports
سال: 2022
ISSN: ['2766-7820']
DOI: https://doi.org/10.52768/2766-7820/2188