Results 11 to 20 of about 20,451 (238)

Development of a Child with Joubert Syndrome [PDF]

The Spanish Journal of Psychology, 2001
Sin ...
M. Carmen Torres, Montserrat Buceta, M. Consuelo Cajide   +2 more
core   +7 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   +2 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   +2 more sources

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   +2 more sources

An infant with Joubert syndrome: A case report [PDF]

Radiology Case Reports, 2023
Joubert syndrome is a rare neurological and developmental malfunction represented by decreased muscle tone, ataxia, and delayed developmental milestones.
Shehroze Tabassum, MBBS, Aroma Naeem, MBBS, Rana Uzair Ahmad, MBBS, Farhan Naeem, MBBS, Faiza Afzal, MBBS   +4 more
doaj   +2 more sources

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges. [PDF]

Clin Case Rep
ABSTRACT Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in
Ahmed AAE, Ahmed MMB, Ibrahim AGA, Aref AMA, Saidahmed TMA, Abd Elaziz OEO, Neel ZAA, Alkarar MMA, Altegani TMN, Mohammed AAA, Amin MHJ.   +10 more
europepmc   +2 more sources

Adult-onset bulbar ptosis in Joubert syndrome [PDF]

Clinical Ophthalmology, 2012
Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Burt B, Levine J, Le K
doaj   +4 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

Joubert syndrome: A classic case

Journal of Family Medicine and Primary Care, 2019
Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia ...
Puneeth Kumar, Amit Dey, Kartik Mittal, Rajaram Sharma, Anmol Goyal, Priya Hira   +5 more
doaj   +4 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