title: Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.
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 dysmorphism and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenital mitral stenosis, two cases of eventration of the diaphragm, idiopathic thrombocytopaenic purpura and vitiligo. One child had an Arnold Chiari type 1 malformation and another had epibulbar dermoids, 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.
authors.affiliation: Northern Regional Genetic Service, Auckland Hospital, New Zealand. juliemc@ahsl.co.nz
authors.forename: J
authors.initials: J
authors.lastname: McGaughran
authors.forename: S
authors.initials: S
authors.lastname: Aftimos
authors.forename: C
authors.initials: C
authors.lastname: Jefferies
authors.forename: I
authors.initials: I
authors.lastname: Winship
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000208:ethnology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000208:ethnology; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000208:ethnology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000208:ethnology; D008297:Male; D009520:New Zealand / Q000453:epidemiology; D010641:Phenotype