Joubert syndrome with orofacial digital features

Parveen Bhardwaj, Minoo Sharma, Karan Ahluwalia

Journal of Neurosciences in Rural Practice 2018 9(1):152-154

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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