Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.

TitleClinical phenotypes of nine cases of Kabuki syndrome from New Zealand.
Publication TypeJournal Article
Year of Publication2001
AuthorsMcGaughran JM, Aftimos S, Jefferies C, Winship I
JournalClinical dysmorphology
Volume10
Issue4
Pagination257-62
Date Published2001 Oct
Abstract

Nine cases of Kabuki syndrome have been identified in Auckland and surrounding regions in the North Island, New Zealand since 1995. All have the characteristic facial dysmorphismi and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenitali mitral stenosisi, two cases of eventrationi of the diaphragm, idiopathici thrombocytopaenic purpura and vitiligoi. One child had an Arnold Chiari type 1 malformation and another had epibulbar dermoidsi, neither of which has previously been reported in this syndrome. There was a wide diversity of ethnic origin, with the syndrome being described in patients from the Pacific Islands for the first time. The cases described emphasize the broad range of associated anomalies found in Kabuki syndrome and further illustrate its presence in all ethnic groups.

Alternate JournalClin. Dysmorphol.
Citation Key11665999