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

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.