抄録
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.
本文言語 | English |
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ページ(範囲) | 2000-2002 |
ページ数 | 3 |
ジャーナル | American Journal of Medical Genetics, Part A |
巻 | 158 A |
号 | 8 |
DOI | |
出版ステータス | Published - 2012 8 1 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)