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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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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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Clinical and genetic characteristics of 36 children with Joubert syndrome
Frontiers in Pediatrics, 2023 Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Yan Dong +9 more
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Joubert syndrome and related disorders [PDF]
Orphanet Journal of Rare Diseases, 2010 Abstract 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 imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1/80,
F. Brancati +2 more
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Genotype–phenotype correlates in Joubert syndrome: A review
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022 Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable organ involvement.
S. Gana, Valentina Serpieri, E. Valente
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