| Literature DB >> 35894201 |
Abstract
Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.Entities:
Keywords: Child; FBN1 gene; Gene mutation; Marfan syndrome; Neonatal Marfan syndrome
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Year: 2022 PMID: 35894201 PMCID: PMC9336618 DOI: 10.7499/j.issn.1008-8830.2203099
Source DB: PubMed Journal: Zhongguo Dang Dai Er Ke Za Zhi ISSN: 1008-8830