Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

@article{Rieubland2010PhenotypicAM,
  title={Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.},
  author={Claudine Rieubland and S{\'e}bastien Jacquemont and Laur{\'e}ane Mittaz and M. C. Osterheld and Yvan Vial and Andrea Superti-Furga and Sheila Unger and Luisa Bonafė},
  journal={European journal of medical genetics},
  year={2010},
  volume={53 5},
  pages={294-8}
}
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH; #MIM 224410) is an autosomal recessive form of lethal dwarfism characterized by a defect in segmentation and fusion of vertebral bodies components ("anisospondyly") and by severe limb shortening. It is caused by mutations in the perlecan gene (HSPG2), but so far, only three molecularly confirmed cases have been reported. We report a novel case of DDSH in a fetus that presented at 15 weeks gestation with encephalocele, severe micromelic… CONTINUE READING