Kabuki syndrome: a review.

TitleKabuki syndrome: a review.
Publication TypeJournal Article
Year of Publication2005
AuthorsAdam MP, Hudgins L
JournalClinical genetics
Volume67
Issue3
Pagination209-19
Date Published2005 Mar
Abstract

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversioni of the lower laterali eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasali tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiologyi of this interesting condition.

Alternate JournalClin. Genet.
Citation Key15691356