Evidence map›Paper›PMID 40746772›Full record

ArticleClinical case reports2025

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges.

Ahmed Alshafei Elmahi Ahmed, Mehad Mortada BadrAlden Ahmed, Aisha Gameraldeen Abdalrhim Ibrahim, Arafa Mubarak Abotalib Aref, Thowiba Mohammed Abdalla Saidahmed, Osman Elshazali Osman Abd Elaziz, Zahra Abdalla Ahmed Neel, Mohammed Musa Abozaid Alkarar, Tarig Mohamed Nourallah Altegani, Amjed Abdu Ali Mohammed and 1 more

Abstract read
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In one paragraph

Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Ahmed Alshafei Elmahi AhmedFaculty of Medicine The National Ribat University Khartoum Sudan.ORCID https://orcid.org/0000-0002-5016-7250
Mehad Mortada BadrAlden AhmedFaculty of Medicine and Health Science Nile Valley University Atbara Sudan.
Aisha Gameraldeen Abdalrhim IbrahimFaculty of Medicine and Health Science Nile Valley University Atbara Sudan.
Arafa Mubarak Abotalib ArefFaculty of Medicine and Health Science Nile Valley University Atbara Sudan.
Thowiba Mohammed Abdalla SaidahmedFaculty of Medicine and Health Science Nile Valley University Atbara Sudan.ORCID https://orcid.org/0009-0009-5096-9606
Osman Elshazali Osman Abd ElazizFaculty of Medicine Sheikh Abdullah Al-Badri University Berber Sudan.
Zahra Abdalla Ahmed NeelFaculty of Medicine and Health Science Omdurman Islamic University Khartoum Sudan.ORCID https://orcid.org/0009-0004-0673-8054
Mohammed Musa Abozaid AlkararFaculty of Medicine The National Ribat University Khartoum Sudan.
Tarig Mohamed Nourallah AlteganiFaculty of Medicine and Health Science Omdurman Islamic University Khartoum Sudan.
Amjed Abdu Ali MohammedFaculty of Medicine and Health Science Nile Valley University Atbara Sudan.
Mohammed Hammad Jaber AminFaculty of Medicine Alzaiem Alazhari University Khartoum Sudan.ORCID https://orcid.org/0000-0002-1366-2375

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low-resource settings. Sibling cases with neurodevelopmental delays and MRI-confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in underrepresented populations.

Indexed as

Africadevelopmental milestonesgenetic disorderJoubert syndromemagnetic resonance imagingmolar tooth signSudan

Identifiers

PMID40746772
PMCPMC12311228

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.