Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

TitleKabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.
Publication TypeJournal Article
Year of Publication2005
AuthorsTurner C, Lachlan K, Amerasinghe N, Hodgkins P, Maloney V, Barber J, Temple KI
JournalEuropean journal of human genetics : EJHG
Volume13
Issue6
Pagination716-20
Date Published2005 Jun
Abstract

The underlying cause of the multiple congenitali anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established. We identified seven patients who fulfilled the classical clinical criteria for this syndrome and undertook a detailed clinical, ophthalomological and molecular cytogenetic review. Three of the seven patients had previously undetected oculari anomalies including myopiai, ptosisi, strabismusi and tilted discs. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of KS patients. Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established.

Alternate JournalEur. J. Hum. Genet.
Citation Key15785777