Clinical management of achondroplasia

Arch Dis Child. 2012 Feb;97(2):129-34. doi: 10.1136/adc.2010.189092. Epub 2011 Apr 3.

Abstract

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rarer but more severe problems such as cervicomedullary compression. Knowledge of these complications, appropriate surveillance strategies and treatment options is essential for the paediatrician. The authors review the published literature in this area and provide a system based approach to the management of the healthcare needs of the child with achondroplasia.

Publication types

  • Review

MeSH terms

  • Achondroplasia / complications
  • Achondroplasia / diagnosis*
  • Achondroplasia / therapy
  • Child
  • Developmental Disabilities / etiology
  • Genetic Counseling
  • Humans
  • Nervous System Diseases / etiology
  • Population Surveillance / methods
  • Respiratory Tract Diseases / etiology