Journal
JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE
Volume 9, Issue 1, Pages 152-154Publisher
MEDKNOW PUBLICATIONS & MEDIA PVT LTD
DOI: 10.4103/jnrp.jnrp_338_17
Keywords
Cerebellar malformation; ciliopathy; Joubert syndrome; magnetic resonance imaging; molar tooth sign
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Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.
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