Intrafamilial variability in cleidocranial dysplasia: a three generation family

Am J Med Genet. 1992 Feb 1;42(3):298-303. doi: 10.1002/ajmg.1320420307.


We present a 3-generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the condition. This intrafamilial variation illustrates the need for clinical assessment of family members following the birth of an apparent sporadic case of CCD.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Cleidocranial Dysplasia / genetics*
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Infant
  • Middle Aged
  • Mutation / genetics
  • Pedigree
  • Phenotype