Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.

TitleKabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.
Publication TypeJournal Article
Year of Publication1995
AuthorsBurke LW, Jones MC
JournalThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Volume32
Issue1
Pagination77-84
Date Published1995 Jan
Abstract

Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the authors recommend that the term "make-up" be deleted from the designation as it has caused problems with some of the families.) Clinical features include a characteristic faciesi, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences. The phenotypei appears to evolve over time making the diagnosis difficult in infancy. The progressive changes in the facial characteristics as well as the musculoskeletal problems suggest an underlying defect of the connective tissuei. Finally, the syndrome appears to be more common in the non-Japanese population than previously appreciated, particularly in the cleft palatei population.

Alternate JournalCleft Palate Craniofac. J.
Citation Key7727492