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Prenatal diagnosis of Joubert syndrome: A case report.

Radiol Case Rep
Joubert syndrome (JS) is a rare autosomal recessive disorder with brain stem and cerebellar malformations. Early diagnosis through Magnetic Resonance Imaging (MRI) and ultrasonography (US) is crucial for managing this condition. This report presents a JS
Yen VTH.
europepmc   +2 more sources

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant [PDF]

npj Genomic Medicine
Oro-Facial-Digital Syndrome (OFDS) and Joubert syndrome are ciliary disorders. Fifteen individuals of consanguineous Bedouin kindred presented with global developmental delay with no speech, and a clear OFDS phenotype, combined with Joubert syndrome ...
Matan M. Jean, Anan Yunis, Tzofit Elbaz-Biton, Vadim Dolgin, Ginat Narkis, Analia Michaelovsky, Marina Eskin-Schwartz, Alexandra A. Tsitrina, Nadav Agam, Tomer Poleg, Amit Safran, Ofek Freund, Noam Hadar, Dan Levy, Ilan Shelef, Khalil El Amour, Hagit Flusser, Ohad S. Birk   +17 more
doaj   +2 more sources

Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report

Nature and Science of Sleep, 2022
Rosa Peraita-Adrados Sleep and Epilepsy Unit- Clinical Neurophysiology Service, University General Hospital and Research Institute Gregorio Marañón, University Complutense of Madrid (UCM), Madrid, SpainCorrespondence: Rosa Peraita-Adrados, Email rosa ...
Peraita-Adrados R
doaj   +2 more sources

A case of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide. [PDF]

J Clin Sleep Med
We report a case of severe central sleep apnea incidentally diagnosed during polysomnography for suspected obstructive sleep apnea. Characteristic clinical features included episodic hyperventilation followed by apnea from hypocapnia, which did not ...
Murashima R, Shiota S, Sugiyama A, Katsu K, Kuroda Y, Sato Y, Mitsuishi Y, Shiroshita N, Kawana F, Kasai T, Akashi T, Takahashi K.   +11 more
europepmc   +2 more sources

Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report [PDF]

BMC Pregnancy and Childbirth
Background Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can ...
Si-Xiu Li, Leiting Chen, Chen Deng, Dongmei Tang, Jing Zhang, Wen-Guang Hu, Yu Hu, Hua Lai, Xiao Yang   +8 more
doaj   +2 more sources

Neurocognitive Functions and Behavior in Joubert Syndrome

Pediatric Neurology Briefs, 2016
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
Andrea Poretti, Gwendolyn J. Gerner
doaj   +3 more sources

Persistent left superior vena cava discovered during central line insertion in a patient with Joubert syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Persistent left superior vena cava is the most common thoracic venous anomaly. It is usually asymptomatic and discovered incidentally during diagnostic or therapeutic interventions.
Mohammed Ismail Mohammed Heyba, Mohamed Rabie Mohamed Ali Gadelrab, Waleed Al-Araby Ahmed   +2 more
doaj   +2 more sources

Joubert Syndrome - A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia ...
Bandichhode S. T., Anitha M. S., Anand Pandav   +2 more
doaj   +1 more source

Joubert syndrome associated with central sleep apnea in an adult from Colombia [PDF]

, 2021
Introducción: El síndrome de Joubert es una ciliopatía de transmisión autosómica recesiva. Las cilias primarias cumplen funciones en la proliferación neuronal, migración axonal en cerebelo y tallo cerebral.
Diossa Ramirez, Jhon Darbi
core   +1 more source

Joubert-Plus syndrome with an atretic cephalocele: a case report

Radiology Case Reports, 2022
Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign.
Ali Al-Smair, MD, Sara Younes, MD, Ahmad Saadeh, MD, Abdel Rahman Kaoukji, MD, Osama Jaber, MBBS   +4 more
doaj   +1 more source