Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?

TitleFamilial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
Publication TypeJournal Article
Year of Publication2005
AuthorsBelengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J-P
JournalGenetic counseling (Geneva, Switzerland)
Volume16
Issue2
Pagination167-71
Date Published2005
Abstract

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short stature and viscerali abnormalities. The phenotypei observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder.

Alternate JournalGenet. Couns.
Citation Key16080297