雅各布森综合征：嗅觉球发育不全、严重内分泌病变和神经发育迟缓1例报告

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-10-10 DOI:10.1002/ccr3.71034

Sajjad Ghanim Al-Badri, Aditya Duhan, Rania H. Al-Taie, Muntadher Yousif Hasan Al Gehadi, Ibrahim Khalil

引用次数: 0

摘要

雅各布森综合征是一种罕见的11q缺失症，涉及多系统。这个案例凸显了一种复杂的不平衡；15易位、嗅球发育不全、广泛的白质异常和严重的内分泌病变，强调需要进行全面的遗传和神经影像学评估。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay

查看原文本刊更多论文

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay

Jacobsen syndrome is a rare 11q deletion disorder with multisystem involvement. This case highlights a complex unbalanced 11;15 translocation, olfactory bulb agenesis, extensive white matter abnormalities, and severe endocrinopathies, emphasizing the need for comprehensive genetic and neuroimaging evaluations.

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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).