Open AccessDominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
Author(s) -
Russell Karen L.,
Ming Jeffrey E.,
Patel Ketan,
Jukofsky Lori,
Magnusson Mark,
Krantz Ian D.
Publication year - 2001
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.10066
Subject(s) - cornelia de lange syndrome , daughter , pediatrics , medicine , transmission (telecommunications) , developmental disorder , hearing loss , audiology , biology , psychiatry , autism , evolutionary biology , electrical engineering , engineering
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. © 2001 Wiley‐Liss, Inc.