Literature DB >> 8445622

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

I D Young1, J M Zuccollo, N J Broderick.   

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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Year:  1993        PMID: 8445622      PMCID: PMC1016275          DOI: 10.1136/jmg.30.2.155

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  A case of lethal congenital dwarfism with accelerated skeletal maturation.

Authors:  S Blomstrand; I Claësson; J Säve-Söderbergh
Journal:  Pediatr Radiol       Date:  1985

2.  The lethal multiple pterygium syndromes.

Authors:  J G Hall
Journal:  Am J Med Genet       Date:  1984-04
  2 in total
  2 in total

1.  Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Authors:  A S Jobert; P Zhang; A Couvineau; J Bonaventure; J Roume; M Le Merrer; C Silve
Journal:  J Clin Invest       Date:  1998-07-01       Impact factor: 14.808

2.  The association between environmental lead exposure and bone density in children.

Authors:  James R Campbell; Randy N Rosier; Leonore Novotny; J Edward Puzas
Journal:  Environ Health Perspect       Date:  2004-08       Impact factor: 9.031

  2 in total

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