A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report [PDF]
Journal of Medical Case ReportsBackground 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 +3 more
doaj +2 more sources
New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication [PDF]
ReportsBackground 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 +3 more
doaj +2 more sources
Chronic vomiting revealing Joubert syndrome: A case report [PDF]
Radiology Case ReportsJoubert 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 +7 more
doaj +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 MedicineOro-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 +17 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 +2 more
doaj +7 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
Radiological features of Joubert syndrome and clinical case presentation [PDF]
Radiology Case ReportsJoubert 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 +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 ChildbirthBackground 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 +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 ReportsBackground 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 +2 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 +4 more
doaj +1 more source