Work

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

Year: 2024

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.76583

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

Institutions: Cairo University, Queens Hospital Center, Mount Sinai Queens, Icahn School of Medicine at Mount Sinai

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4405877926