New insights in congenital bowing of the femora

Clin Genet. 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x.

Abstract

The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stüve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases.

Publication types

  • Review

MeSH terms

  • Collagen Type I / genetics
  • Collagen Type I, alpha 1 Chain
  • Femur / abnormalities*
  • Femur / diagnostic imaging
  • Heparan Sulfate Proteoglycans / genetics
  • High Mobility Group Proteins / genetics
  • Humans
  • Leukemia Inhibitory Factor Receptor alpha Subunit
  • Mutation / genetics
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology*
  • Phenotype*
  • Radiography
  • Receptors, Cytokine / genetics
  • Receptors, OSM-LIF
  • SOX9 Transcription Factor
  • Transcription Factors / genetics

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Heparan Sulfate Proteoglycans
  • High Mobility Group Proteins
  • LIFR protein, human
  • Leukemia Inhibitory Factor Receptor alpha Subunit
  • Receptors, Cytokine
  • Receptors, OSM-LIF
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Transcription Factors
  • perlecan