ArticleSudanese journal of paediatrics2016
Joubert syndrome in a neonate: case report with literature review.
Article in Sudanese journal of paediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges.Clinical case reports · 2025Article
- An infant with Joubert syndrome: A case report.Radiology case reports · 2023Article
- Joubert Syndrome: A Rare Radiological Case.Cureus · 2019Article
- Brain magnetic resonance imaging of Joubert syndrome: case presentation in a child.Quantitative imaging in medicine and surgery · 2019Article
- Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Journal of cellular and molecular medicine · 2018Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newborn with mild hypotonia, abnormal pattern of respiration, abnormal eye movements and molar tooth sign on brain CT scan. Joubert syndrome is an uncommon inherited condition and delayed diagnosis is usually related to its variable, non-specific presentation. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counseling and proper rehabilitation.
Indexed as
Identifiers
27651554PMC5025933W2522677835What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.