Kabuki syndrome: Case report in Mexico S¡ndrome de Kabuki; informe de un caso en M¿xico uri icon

Abstract

  • Introduction: Kabuki's Syndrome was first described in 1981 by Niikawa and Kuroki in Japanese population. Since then there have been several cases reported both in and out of Japan. Case report: We herein present the case of a Mexican child diagnosed with Kabuki, the second case reported in this country. We emphasize the ophthalmologic and clinical findings that help in diagnosing this syndrome, given there is no specific genetic test for this purpose. Conclusions: Although Kabuki's syndrome is not a common clinical entity, it is relevant to consider it in patients presenting the typical ophthalmological signs. It is of utmost importance to diagnose promptly to improve life expectancy in these patients. © 2010 Sociedad Mexicana de Oftalmología.

Publication date

  • July 1, 2010