Some chondrodysplasias with short limbs: molecular perspectives

  • Am J Med Genet. 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780.
M Michael Cohen Jr  1
Affiliations
  • 1. Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada. [email protected]
PMID: 12357475 DOI: 10.1002/ajmg.10780
Abstract

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I Collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by Fibroblast Growth Factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.