Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals

Am J Med Genet. 1992 Jun 1;43(3):612-8. doi: 10.1002/ajmg.1320430322.


Cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia, frontal bossing, multiple Wormian bones, and delayed eruption of the teeth. The gene locus for this syndrome has not yet been assigned. Three individuals with manifestations of cleidocranial dysplasia associated with rearrangements of chromosome 8q22 are described. The evidence presented suggests that the gene for cleidocranial dysplasia may be located on chromosome 8q in humans in a region showing homology to mouse chromosome 3.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone and Bones / abnormalities
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 8*
  • Cleidocranial Dysplasia / genetics*
  • Female
  • Hearing Loss, Conductive / physiopathology
  • Humans
  • Infant, Newborn
  • Pedigree