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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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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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Visual function in children with Joubert syndrome
Developmental Medicine & Child Neurology, 2023 To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.
F. Morelli +9 more
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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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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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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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Joubert syndrome: a case report of neonatal presentation and early diagnosis
Boletín Médico del Hospital Infantil de México, 2023 Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described.
Carla I. González-Gordillo +4 more
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Joubert syndrome diagnosed renally late [PDF]
, 2021 Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults.
Byrne, C +4 more
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Joubert syndrome: Molecular basis and treatment. [PDF]
J Mother Child, 2022 Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are ...
Spahiu L +4 more
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