Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p132 | (1) | ICCBH2013

Studies on bone and osteoclasts in patients with Shwachman Diamond syndrome

Helfrich Miep , Mellis David , Coxon Fraser , Greenhorn John , Kuijpers Taco , Crockett Julie

Shwachman Diamond syndrome (SDS; MIM 260400) is a monogenic, autosomal recessive, pancreatic condition often accompanied by low bone mass and fracture. In SDS, as in cystic fibrosis, a low bone mass may be secondary to poor nutrition or chronic low-grade infection, but it has also been suggested there may be a primary bone phenotype. Paradoxically, recent studies in cell lines and in a mouse knockout for the SBDS gene, have suggested changes in important osteoclast gr...