Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p71 | (1) | ICCBH2015

Muscle and bone impairment in children with Marfan syndrome: correlation with age and FBN1 genotype

Haine Elsa , Tauber Maithe , Van Kien Philippe Khau , Auriol Francoise , Gennero Isabelle , Julia Sophie , Dulac Yves , Salles Jean-Pierre , Edouard Thomas

Background: Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited.Objectives: The aim of th...