朱伯特综合征：两名患有神经发育迟缓且诊断面临挑战的苏丹姐妹的罕见病例。
Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges.
作者信息
Ahmed Ahmed Alshafei Elmahi, Ahmed Mehad Mortada BadrAlden, Ibrahim Aisha Gameraldeen Abdalrhim, Aref Arafa Mubarak Abotalib, Saidahmed Thowiba Mohammed Abdalla, Abd Elaziz Osman Elshazali Osman, Neel Zahra Abdalla Ahmed, Alkarar Mohammed Musa Abozaid, Altegani Tarig Mohamed Nourallah, Mohammed Amjed Abdu Ali, Amin Mohammed Hammad Jaber
机构信息
Faculty of Medicine The National Ribat University Khartoum Sudan.
Faculty of Medicine and Health Science Nile Valley University Atbara Sudan.
出版信息
Clin Case Rep. 2025 Jul 30;13(8):e70733. doi: 10.1002/ccr3.70733. eCollection 2025 Aug.
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.
乔伯特综合征的罕见性和诊断复杂性，尤其是在苏丹，在资源匮乏的环境中构成了重大挑战。患有神经发育迟缓且经MRI证实有磨牙症迹象的同胞病例凸显了迫切需要提高临床怀疑意识、提供可及的神经影像学检查以及遗传咨询，以解决在代表性不足人群中诊断不足的问题。
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