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Joubert Syndrome with Orofacial Digital Features
Parveen Bhardwaj1, Minoo Sharma1, Karan Ahluwalia1
1Department of Pediatrics and Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
Abstract:
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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