Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy
Joubert syndrome and related disorders (JSRDs) are a group of anomalies characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and apnea and hyperpnea in infancy with multiorgan involvement in which the pathognomonic “the molar tooth sign” is present on the brain magnetic resonance imaging. In this paper, we reported on a patient with JSRD who presented with congenital hepatic fibrosis, autosomal recessive polycystic kidney disease, and pigmentary retinopathy.
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