Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges
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.
Authors
- Ahmed A. Ahmed (ORCID: https://orcid.org/0000-0002-5016-7250)
- Mohammed Hammad Jaber Amin (ORCID: https://orcid.org/0000-0002-1366-2375)
- Abeer Abdelraouf Hyder Mohammed
- Arafa Mubarak Abotalib Aref
- Mehad Mortada BadrAlden Ahmed
- Aisha Gameraldeen Abdalrhim Ibrahim
- Thowiba Mohammed Abdalla Saidahmed (ORCID: https://orcid.org/0009-0009-5096-9606)
- Zahra Abdalla Ahmed Neel
- Mohammed Musa Abozaid Alkarar
- Tarig Mohamed Nourallah Altegani
- Osman Elshazali Osman Abd Elaziz
Institutions
- University of Khartoum (SD)
- Nile Valley University (SD)
- Alzaiem Alazhari University (SD)
- University of Bakhtalruda (SD)
- National Ribat University (SD)
- Omdurman Islamic University (SD)
- Sudan Medical Specialization Board (SD)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-07-30
- DOI
- https://doi.org/10.1002/ccr3.70733
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00