2014
DOI: 10.1038/gim.2013.123
|View full text |Cite
|
Sign up to set email alerts
|

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1

Citation Types

1
50
0
2

Year Published

2014
2014
2021
2021

Publication Types

Select...
8
1

Relationship

0
9

Authors

Journals

citations
Cited by 46 publications
(55 citation statements)
references
References 20 publications
1
50
0
2
Order By: Relevance
“…La déformation peut se majorer au moment de la puberté, surtout si la croissance est rapide, et une malformation modérée peut alors devenir rapidement sévère [16]. Le pectus excavatum est observé chez 62 % des adolescents atteints de Marfan âgés de 15-17 ans [17]. Le retentissement fonctionnel du pectus excavatum est principalement attribué à la compression des cavités cardiaques et aux modifications géométriques du ventricule droit, la réduction des volumes pulmonaires étant le plus souvent modeste.…”
Section: Déformations De La Paroi Thoraciqueunclassified
“…La déformation peut se majorer au moment de la puberté, surtout si la croissance est rapide, et une malformation modérée peut alors devenir rapidement sévère [16]. Le pectus excavatum est observé chez 62 % des adolescents atteints de Marfan âgés de 15-17 ans [17]. Le retentissement fonctionnel du pectus excavatum est principalement attribué à la compression des cavités cardiaques et aux modifications géométriques du ventricule droit, la réduction des volumes pulmonaires étant le plus souvent modeste.…”
Section: Déformations De La Paroi Thoraciqueunclassified
“…MFS is associated with pathologic findings in the cardiovascular, ocular, and skeletal systems; and less commonly the lungs, dura, and skin. Clinical manifestations of MFS, particularly the musculoskeletal manifestations, become more apparent with increasing age; however, it can be diagnosed in the neonatal period [3,4]. Neonatal MFS (nMFS) is associated with a more severe phenotype and increased morbidity and mortality compared to classic MFS (cMFS) [3,[5][6][7].…”
Section: Introductionmentioning
confidence: 99%
“…4 That the Marfan phenotype evolves with age has been documented in 259 children with mutations affecting function of the FBN1 gene. 5 A variable genotype/phenotype relationship has been observed between the type of mutation and Marfan phenotype. 6,7 Six recent reports describe seven patients with a newly recognized syndrome, the clinical features of which overlap with those of congenital MFS, progeroid syndromes, and lipodystrophy.…”
mentioning
confidence: 99%