Biology of RUNX2 and Cleidocranial Dysplasia

J Craniofac Surg. 2013 Jan;24(1):130-3. doi: 10.1097/SCS.0b013e3182636b7e.

Abstract

Three features of cleidocranial dysplasia that are not always appreciated are hypoplastic iliac wings, short stature, and brachydactyly. Because of the pelvic abnormality, pregnant women may require a cesarean delivery. Short stature and brachydactyly indicate more generalized skeletal abnormalities. These are derived from endochondral and intramembranous ossification, but the distinction between these 2 processes is oversimplified because both processes are involved in long bone and clavicular development. Two sections follow: the biology of RUNX2 and the nature of haploinsufficiency in RUNX2 mutations for cleidocranial dysplasia.

Publication types

  • Review

MeSH terms

  • Cleidocranial Dysplasia / genetics*
  • Core Binding Factor Alpha 1 Subunit / genetics*
  • Humans
  • Mutation
  • Phenotype

Substances

  • Core Binding Factor Alpha 1 Subunit
  • RUNX2 protein, human