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Chronic vomiting revealing Joubert syndrome: A case report [PDF]

Radiology Case Reports
Joubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar, Asmae Kasimi, Karim Haddar, Hajar Errahal, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker   +7 more
doaj   +3 more sources

A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment.
Liany F. Acosta-Paguada, Milca S. Velásquez-Hernandez, Paola Sophia Bonilla Medina, Eduardo Smelin Perdomo Domínguez   +3 more
doaj   +3 more sources

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication [PDF]

Reports
Background and Clinical Significance: Joubert syndrome (OMIM #213300) is a rare predominantly autosomal recessive inherited condition characterized by the classic cerebellar vermis hypoplasia and brainstem anomalies (also known as the “molar tooth sign”),
Yutaka Furuta, Erica T. Nelson, Rory J. Tinker, Angela R. Grochowsky   +3 more
doaj   +3 more sources

Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report [PDF]

Children
Background: Joubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and
Łukasz Mański, Aleksandra Moluszys, Eliza Wasilewska, Agnieszka Rosa, Krzysztof Szczałuba, Jan Szumlicki, Krystyna Szymańska, Jolanta Wierzba   +7 more
doaj   +2 more sources

Joubert Syndrome and related disorders [PDF]

Orphanet Journal of Rare Diseases, 2010
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain ...
Brancati Francesco, Dallapiccola Bruno, Valente Enza   +2 more
doaj   +8 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

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG Advances, 2021
Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell ...
Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty   +19 more
doaj   +3 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

Radiological features of Joubert syndrome and clinical case presentation [PDF]

Radiology Case Reports
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD, Bruno Flores Escobar, MD, Julian Guzman Martinez, MD, Ricardo Alfonso Barrera Martínez, MD, Frida Priscila Hernández Cortez, MD   +4 more
doaj   +2 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