A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

@article{Isidor2013ANF,
  title={A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.},
  author={Bertrand Isidor and Lo{\"i}c Geffroy and Beno{\^i}t de Courtivron and C{\'e}dric Le Caignec and Christian T Thiel and Geert Mortier and Val{\'e}rie Cormier-Daire and Albert David and Annick Toutain},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 10},
  pages={2645-51}
}
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Skeletal radiographies show platyspondyly and characteristic vertebral body shape with central… CONTINUE READING