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Congenital corneal staphyloma as a complication of Kabuki syndrome
Author(s) -
Tanaka Ryuma,
Takenouchi Toshiki,
Uchida Keiko,
Sato Takeshi,
Fukushima Hiroyuki,
Yoshihashi Hiroshi,
Takahashi Takao,
Tsubota Kazuo,
Kosaki Kenjiro
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35453
Subject(s) - kabuki syndrome , kabuki , medicine , complication , pediatrics , surgery , art , visual arts
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.

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