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Research Article
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
  1. I D Young,
  2. J M Zuccollo,
  3. N J Broderick
  1. Department of Clinical Genetics, City Hospital, Nottingham.

    Abstract

    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.

    https://doi.org/10.1136/jmg.30.2.155

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