Congenital corneal staphyloma as a complication of Kabuki syndrome.

TitleCongenital corneal staphyloma as a complication of Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2012
AuthorsTanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K
JournalAm J Med Genet A
Date Published2012 Aug
KeywordsAbnormalities, Multiple, Corneal Diseases, Face, Hematologic Diseases, Humans, Infant, Newborn, Male, Staphylococcal Infections, Vestibular Diseases

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.

Alternate JournalAm. J. Med. Genet. A
Citation Key1207
PubMed ID22786791