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 prese...

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Main Authors:	Fatemeh Farahmand, Hojjatollah Jafari-Fesharaki, Rouhullah Edalatkhah, Mohammad Eshagh Rozeh
Format:	Article
Language:	English
Published:	Tehran University of Medical Sciences 2017-01-01
Series:	Case Reports in Clinical Practice
Subjects:	Joubert syndrome and related disorders Congenital hepatic fibrosis Midbrain malformation
Online Access:	https://crcp.tums.ac.ir/index.php/crcp/article/view/68

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spelling	doaj-49a94a2830634962a49ff03283b1f0342020-11-25T04:11:31ZengTehran University of Medical SciencesCase Reports in Clinical Practice2538-26832538-26912017-01-0113Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary RetinopathyFatemeh Farahmand0Hojjatollah Jafari-Fesharaki1Rouhullah Edalatkhah2Mohammad Eshagh Rozeh3Department of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, IranDepartment of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, IranDepartment of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, IranDepartment of Pediatric Gastroenterology, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran 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/68Joubert syndrome and related disordersCongenital hepatic fibrosisMidbrain malformation
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Fatemeh Farahmand Hojjatollah Jafari-Fesharaki Rouhullah Edalatkhah Mohammad Eshagh Rozeh
spellingShingle	Fatemeh Farahmand Hojjatollah Jafari-Fesharaki Rouhullah Edalatkhah Mohammad Eshagh Rozeh Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy Case Reports in Clinical Practice Joubert syndrome and related disorders Congenital hepatic fibrosis Midbrain malformation
author_facet	Fatemeh Farahmand Hojjatollah Jafari-Fesharaki Rouhullah Edalatkhah Mohammad Eshagh Rozeh
author_sort	Fatemeh Farahmand
title	Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy
title_short	Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy
title_full	Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy
title_fullStr	Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy
title_full_unstemmed	Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy
title_sort	joubert syndrome and related disorders: congenital hepatic fibrosis, autosomal recessive polycystic kidney disease, and pigmentary retinopathy
publisher	Tehran University of Medical Sciences
series	Case Reports in Clinical Practice
issn	2538-2683 2538-2691
publishDate	2017-01-01
description	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.
topic	Joubert syndrome and related disorders Congenital hepatic fibrosis Midbrain malformation
url	https://crcp.tums.ac.ir/index.php/crcp/article/view/68
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Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy

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