ArticleAnnals of medicine and surgery (2012)2022
Joubert syndrome a rare entity and role of radiology: A case report.
Article in Annals of medicine and surgery (2012), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Novel compound heterozygous variants in theFrontiers in pediatrics · 2024Article
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8 authors.
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Abstract
Introduction and importance: Joubert syndrome (JS) is defined by the characteristic set of cerebellum and midbrain abnormalities that communally result in the indicative "molar tooth sign" on the axial MRI report. The incidence of estimated to be from 1:80,000 to 1:100,000. Case presentation: Clinical features can be noticed shortly after birth that includes hypotonia episodic tachypnea and apnea that may be followed by developmental delays and speech apraxia. Polydactyly, cleft lip or palate, tongue abnormalities, hypotonia, encephalocele, meningocele, hydrocephalus, kidney problems, pituitary abnormality, and autistic-like behavior are the other deformities that can be seen with JS. Seizures may also occur. Motor disability and mental health range from mild to severe forms. Clinical discussion: Treatment for JS is symptomatic and supportive. The prognosis depends on cerebellar vermis development. Conclusion: JS can be missed if special attention were not given to radiological findings.
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