Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy

  • Fatemeh Farahmand Mail 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
Keywords:
Joubert syndrome and related disorders, Congenital hepatic fibrosis, Midbrain malformation

Abstract

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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Published
2017-01-09
How to Cite
1.
Farahmand F, Jafari-Fesharaki H, Edalatkhah R, Eshagh Rozeh M. Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy. CRCP. 1(3):81-84.
Section
Case Report(s)