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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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Anaesthetic Management of Cataract Surgery in Patient with Joubert Syndrome
GAIMS Journal of Medical Sciences, 2022 Joubert syndrome is a rare autosomal recessive disorder of the cerebellum that occurs In 1 of 100000 live births. The syndrome is characterized by malformations of the cerebellum and brainstem, hypotonia, developmental delay, hypertonia or apnea attacks ...
Jaldeep Patel +3 more
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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
Cell Reports, 2019 Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood.
Kari-Anne M. Frikstad +15 more
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A case report of Joubert syndrome with renal involvement and seizures in a neonate
Radiology Case Reports, 2021 Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD +9 more
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BMC Medical Genetics, 2020 Background Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular ...
Thi Phuong Hoa Bui +6 more
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