Searchable abstracts of presentations at key conferences on calcified tissues

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...

ba0007p52 | (1) | ICCBH2019

Variable familial expression of spondylometaphyseal dysplasia with coxa vara and a novel FN1 mutation

Steichen-Gersdorf Elisabeth , Biedermann Rainer , Wansch Juergen , Witsch-Baumgartner Martina

Background: Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies. One such condition is SMD with ‘corner fractures’ (OMIM #184255). These individuals generally show development of coxa vara, scoliosis and triangular ossification centers at the edges of metaphyses that simulate fractures.Presenting problem: To date only 16 p...