[Clinical signs of Marfan syndrome in children under 10 years of age].

doi:10.1016/j.arcped.2013.08.009

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Article

[Clinical signs of Marfan syndrome in children under 10 years of age].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Nov 2013

Laffargue F, Lienhardt-Roussie A, Lacombe D, Delrue M-A

Abstract excerpt

Diagnosing Marfan syndrome in young children is difficult because of the great variability of expression of the disease and because the phenotype evolves over the life course. The goal of this retrospective study was to describe the first clinical symptoms in children under 10 years of age with Marfan syndrome and to evaluate the pertinence of the new 2010 Ghent criteria in comparison with the 1996 criteria....

Topics

Aortic Aneurysm
Arachnodactyly
Child
Child, Preschool
Ectopia Lentis
Facies
Female
Fibrillin-1
Fibrillins
Flatfoot
Funnel Chest
Humans
Infant
Joint Instability
Male
Marfan Syndrome
Microfilament Proteins
Mutation

Source

Open in PubMed

Identifiers

PMID: 24090671
DOI: 10.1016/j.arcped.2013.08.009

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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