How to Cite this Article: Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K. 2012. Congenital corneal staphyloma as a complication of kabuki syndrome. Am J Med Genet Part A. 158A:2000–2002.
Congenital corneal staphyloma as a complication of Kabuki syndrome†
Article first published online: 11 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 8, pages 2000–2002, August 2012
How to Cite
Tanaka, R., Takenouchi, T., Uchida, K., Sato, T., Fukushima, H., Yoshihashi, H., Takahashi, T., Tsubota, K. and Kosaki, K. (2012), Congenital corneal staphyloma as a complication of Kabuki syndrome. Am. J. Med. Genet., 158A: 2000–2002. doi: 10.1002/ajmg.a.35453
- Issue published online: 19 JUL 2012
- Article first published online: 11 JUL 2012
- Manuscript Accepted: 12 APR 2012
- Manuscript Received: 28 DEC 2011
- Kabuki syndrome;
- CHARGE syndrome
Kabuki syndrome has long been clinically defined based mainly on its characteristic eye features. The recent discovery of MLL2 as a causative gene of Kabuki syndrome has enabled the extreme end of the phenotype to be explored. We herein report on two patients with striking visible congenital staphyloma at birth. A diagnosis of Kabuki syndrome was subsequently made in both patients based on a constellation of characteristic eye features, cardiac abnormalities and severe developmental delay, and finally by the confirmation of MLL2 mutations. In conclusion, congenital corneal staphyloma is a complication of Kabuki syndrome with MLL2 mutations. © 2012 Wiley Periodicals, Inc.