Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?

Academic Article


  • Cleidocranial dysplasia (CCD) is classically an autosomal dominant disorder. However, the possibility of an autosomal recessive form of CCD has been suggested based on a report of 2 consanguineous families, one with a single affected child, the second with affected sibs, born to normal parents. We present a family with sibs with CCD born to normal parents, and suggest germ line mosaicism as the more likely mechanism for this occurrence.
  • Authors

    Author List

  • Zackai EH; Robin NH; McDonald-McGinn DM
  • Start Page

  • 348
  • End Page

  • 351
  • Volume

  • 69
  • Issue

  • 4