Searchable abstracts of presentations at key conferences on calcified tissues

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...