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Article

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.

Medicine - 12 Feb 2021

Yoon Su Hyun, Kong Younghwa

Abstract excerpt

RATIONALE: Marfan syndrome (MFS) has been defined as a genetic disorder that affects various systems such as the musculoskeletal, orbital, and cardiovascular systems. Neonatal MFS is considered rare and the most severe form of MFS is characterized by rapidly progressive atrioventricular valve dysfunction, often leading to death during early childhood due to congestive heart failure. PATIENT CONCERNS: A newborn...

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Identifiers

PMID: 33578525
DOI: 10.1097/MD.0000000000024301
PMCID: PMC10545169

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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