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. 1993 Feb;30(2):155–157. doi: 10.1136/jmg.30.2.155

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

I D Young 1, J M Zuccollo 1, N J Broderick 1
PMCID: PMC1016275  PMID: 8445622

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Blomstrand S., Claësson I., Säve-Söderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol. 1985;15(2):141–143. doi: 10.1007/BF02388725. [DOI] [PubMed] [Google Scholar]
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