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

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 famil ial occurrences having been reported. Most individuals with CdLS do not rep roduce as a result of the severity of the disorder. Maternal transmission h as been well documented, as have several cases of multiple-affected childre n being born to apparently unaffected parents. Paternal transmission has ra rely been reported. A case is reported here of a father with classic featur es of CdLS with a similarly affected daughter. A review of the reported fam ilial cases of CdLS is summarized. (C) 2001 Wiley-Liss, Inc.