A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

@article{Young1993ALS,
  title={A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?},
  author={Ian D. Young and Jane M Zuccollo and N J Broderick},
  journal={Journal of medical genetics},
  year={1993},
  volume={30 2},
  pages={155-7}
}
The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance. 

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