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

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-07-30 DOI:10.1002/ccr3.70733

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, Mohammed Hammad Jaber Amin

引用次数: 0

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.

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朱伯特综合征：一个罕见的案例，两个苏丹姐妹与神经发育迟缓和诊断挑战

Joubert综合征的罕见性和诊断复杂性，特别是在苏丹，对资源匮乏的环境构成了重大挑战。神经发育迟缓的兄弟姐妹病例和mri证实的磨牙征突出了迫切需要提高临床怀疑，可获得的神经影像学和遗传咨询，以解决代表性不足人群的诊断不足问题。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).