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

Manifestations respiratoires du syndrome de Marfan

“…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.…”

Marfan syndrome associated aortic disease in neonates and children: a clinical–morphologic review

“…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].…”

Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

“…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.…”