Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

TitleColoboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.
Publication TypeJournal Article
Year of Publication2003
AuthorsMing JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH
JournalAmerican journal of medical genetics. Part A
Volume123A
Issue3
Pagination249-52
Date Published2003 Dec 15
Abstract

Kabuki (Niikawa-Kuroki) syndrome is associated with growth retardation, developmental delay, congenitali heart disease, cleft palatei, and characteristic facial features. Although the external appearance of the eyes has been well-described, the type and frequency of structural and functional eye anomalies has not been emphasized. We report three children with Kabuki syndrome who also had a retinal colobomai. A diagnosis of CHARGE association was initially suggested in two of the patients before the typical facial features of Kabuki syndrome emerged. A detailed review of reported cases of Kabuki syndrome shows that a variety of eye anomalies are associated with Kabuki syndrome. The incidence of coloboma is greatly increased in Kabuki syndrome. Thus, ophthalmologic abnormalities are frequently associated with Kabuki syndrome, and an ophthalmologic evaluation should be performed for each patient. Phenotypic overlap, including congenital heart, ear, and renali defects, can lead to the diagnosis of CHARGE association, especially since the typical facial features of Kabuki syndrome may not be apparent in early infancy. Thus, Kabuki syndrome should be considered in patients with coloboma if other features consistent with this condition are present, and follow-up evaluations are indicated for establishing the proper diagnosis.

Alternate JournalAm. J. Med. Genet. A
Citation Key14608645