Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

Am J Med Genet. 2001 Dec 15;104(4):267-76. doi: 10.1002/ajmg.10066.


The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do not reproduce as a result of the severity of the disorder. Maternal transmission has been well documented, as have several cases of multiple-affected children being born to apparently unaffected parents. Paternal transmission has rarely been reported. A case is reported here of a father with classic features of CdLS with a similarly affected daughter. A review of the reported familial cases of CdLS is summarized.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Child, Preschool
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Family Health
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Male
  • Pedigree