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Article

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.

Klinische Padiatrie - 1 Jul 2010

Apitz C, Mackensen-Haen S, Girisch M, Kerst G, Wiegand G, Stuhrmann M, Niethammer K, Behrwind G, Hofbeck M

Abstract excerpt

Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome. Within few hours after...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20455198
DOI: 10.1055/s-0030-1247510

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.PMID 20455198Read ↗

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Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.Semantic proximity Read ↗

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