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一例患有马凡综合征的身材矮小患者：一个关于纵隔增宽的故事。

A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum.

作者信息

Hegazy Yasser, Abdallah Alshaimaa, Salem Ahmed, Assaker Ali, Elmogy Ahmed

机构信息

Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.

Radiology, Cairo University, Cairo, EGY.

出版信息

Cureus. 2024 Dec 29;16(12):e76583. doi: 10.7759/cureus.76583. eCollection 2024 Dec.

DOI:10.7759/cureus.76583
PMID:39881920
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11774626/
Abstract

Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by complex manifestations involving musculoskeletal, cardiovascular, and ocular systems. The usual presentation for suspecting diagnosis in an individual with aortic root disease is tall stature in addition to other features that fulfill Ghent criteria. On the other hand, we report a case of a 30-year-old male patient with markedly dilated aortic root fulfilling diagnoses of MFS despite being of relatively short stature.

摘要

马凡综合征（MFS）是一种遗传性结缔组织疾病，由FBN1基因突变引起。MFS的特征是表现复杂，涉及肌肉骨骼、心血管和眼部系统。对于怀疑患有主动脉根部疾病的个体，通常的诊断表现除了符合根特标准的其他特征外，还有身材高大。另一方面，我们报告了一例30岁男性患者，尽管身材相对矮小，但主动脉根部明显扩张，符合马凡综合征的诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/5a9359620fec/cureus-0016-00000076583-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/781adeca8a0b/cureus-0016-00000076583-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/4bdd7fd212f2/cureus-0016-00000076583-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/6892bcb9bfd9/cureus-0016-00000076583-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/5a9359620fec/cureus-0016-00000076583-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/781adeca8a0b/cureus-0016-00000076583-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/4bdd7fd212f2/cureus-0016-00000076583-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/6892bcb9bfd9/cureus-0016-00000076583-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f63/11774626/5a9359620fec/cureus-0016-00000076583-i04.jpg

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