A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia

Pediatr Int. 2000 Oct;42(5):564-7. doi: 10.1046/j.1442-200x.2000.01263.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Achondroplasia / diagnosis*
  • Achondroplasia / diagnostic imaging
  • Achondroplasia / genetics
  • Creatine Kinase / blood
  • Developmental Disabilities*
  • Female
  • Humans
  • Infant
  • Polymerase Chain Reaction
  • Radiography
  • Respiratory Insufficiency*

Substances

  • Creatine Kinase