Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p41 | (1) | ICCBH2013

Management of a new case of neonatal hypocalciuric hypercalcemia related to mutation of the calcium-sensing receptor gene with bone abnormalities

Edouard Thomas , Mouly Celine , Mimoun Emmanuelle , Gennero Isabelle , Magdelaine Corinne , Salles Jean Pierre

Background: A 5-month-old girl was referred to our unit after a systemic screening for hip dislocation by X-rays revealed bilateral femoral bowing. She was the first child of healthy non-consanguineous parents, and her family history was unremarkable. Her parents had a normal physical examination, and normal laboratory findings. At presentation, her height was 64.0 cm (Z-score: 0.0) with a regular height velocity. Weight was 7.4 kg (Z-score: 1.0). On physical...

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...