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Major depressive disorder mimicking mental retardation: A rare case of Joubert syndrome (eng)
Klinik Psikiyatri Dergisi, 2022 Joubert Syndrome is a rare genetic and clinical disorder that affects many different parts of the body, especially the central nervous system, musculoskeletal system, kidneys, eyes, respiratory system, endocrine system and liver. In addition to all these
Nazlı Ece Karzan, Damla Eyüboğlu
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BMC Medical Genetics, 2020 Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old
Yue Shen +14 more
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An infant with Joubert syndrome: A case report
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 +4 more
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Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report
Clinical Case Reports, 2023 Pediatric tracheostomy in COVID‐19 patients is a rarity. Joubert syndrome is a rare genetic disease, involving a lack of muscle control. We report the case of a child with Joubert syndrome and a severe form of COVID‐19 infection, in whom we performed ...
Veronica Epure +2 more
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Periventricular nodular heterotopias an atypical manifestation of Joubert syndrome
Nepal Journal of Neuroscience, 2021 Joubert syndrome (JS) is characterized by varying degrees of mid and hindbrain malformations. A thickened superior cerebellar peduncle (“molar tooth sign”), varying degree of cerebellar vermian clefting, and an oddly shaped (“bat-wing”) fourth ventricle ...
Himanshu Mishra, Amit Kumar
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Phenotypic manifestations of C5orf42 pathogenic variants [PDF]
Romanian Journal of Pediatrics, 2022 Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal ...
Elena-Silvia Shelby +4 more
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Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings [PDF]
Journal of Clinical and Diagnostic Research, 2023 Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic ...
Sushant Kumar, Ashok Bhat
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Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically.
Preetam B Patil +3 more
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Rare case of a floppy neonate: Joubert syndrome
Current Medicine Research and Practice, 2021 Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures.
Kumar Ankur +4 more
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