Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p45 | (1) | ICCBH2015

Skeletal dysplasia with short stature and a Larsen-like phenotype due to a homozygous mutation in B3GAT3

Steichen-Gersdorf Elisabeth , Laccone Franco

Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndrome–like phenotypes.We report on a girl with disproportionate short stature and joint laxity with pes planus and radial head dislocation. She was previously a...

ba0004p108 | (1) | ICCBH2015

Unique occurrence of long bone fragility with cranial hyperostosis: Searching for the genetic culprit

Raimann Adalbert , Wintergerst Uwe , Roschger Paul , Stelzl Rainer , Biedermann Rainer , Rasse Michael , Fratzl-Zelman Nadja , Laccone Franco , Klaushofer Klaus , Haeusler Gabriele

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...