Tehran University of Medical Sciences Case Reports in Clinical Practice 2538-2683 1 3 2017 01 09 81 84 EN Fatemeh Farahmand Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran Hojjatollah Jafari-Fesharaki Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran Rouhullah Edalatkhah Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran Mohammad Eshagh Rozeh Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran 2016 05 10 2016 07 31 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. https://crcp.tums.ac.ir/index.php/crcp/article/view/68 https://crcp.tums.ac.ir/index.php/crcp/article/download/68/42