Congenital corneal staphyloma as a complication of Kabuki 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.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Ryuma
R
Tanaka
Toshiki
T
Takenouchi
Keiko
K
Uchida
Takeshi
T
Sato
Hiroyuki
H
Fukushima
Hiroshi
H
Yoshihashi
Takao
T
Takahashi
Kazuo
K
Tsubota
Kenjiro
K
Kosaki
D000015:Abnormalities, Multiple; D003316:Corneal Diseases / Q000150:complications* / Q000151:congenital; D005145:Face / Q000002:abnormalities; D006402:Hematologic Diseases / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013203:Staphylococcal Infections / Q000150:complications* / Q000151:congenital; D015837:Vestibular Diseases / Q000150:complications*