ba0007p52 | (1) | ICCBH2019
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...