Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement

Clin Dysmorphol. 2014 Apr;23(2):45-46. doi: 10.1097/MCD.0000000000000023.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Exostoses, Multiple Hereditary / diagnosis
  • Exostoses, Multiple Hereditary / genetics*
  • Exostoses, Multiple Hereditary / physiopathology
  • Female
  • Follow-Up Studies
  • Genes, Recessive
  • Humans
  • Leukemia Inhibitory Factor Receptor alpha Subunit / genetics*
  • Lower Extremity Deformities, Congenital / physiopathology*
  • Mutation
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / physiopathology

Substances

  • LIFR protein, human
  • Leukemia Inhibitory Factor Receptor alpha Subunit

Supplementary concepts

  • Stuve-Wiedemann syndrome