Results 1 to 10 of about 6,310 (174)

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

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

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

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant. [PDF]

Prenat Diagn
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Casteleyn T, Vogt M, Weichert A, Zimmer B, Lala B, Henrich W, Königbauer JT.   +6 more
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

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

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

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

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth
Maram EA Abdalla Elsayed, Syed M. Ali, Carly Gardner, Igor Kozak   +3 more
doaj   +2 more sources

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