Congenital corneal staphyloma as a complication of Kabuki syndrome. Am J Med Genet A 2012 Aug;158A(8):2000-2
Date
07/13/2012Pubmed ID
22786791DOI
10.1002/ajmg.a.35453Scopus ID
2-s2.0-84864133223 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
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.
Author List
Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki KAuthor
Ryuma Tanaka MD Assistant Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleCorneal Diseases
Face
Hematologic Diseases
Humans
Infant, Newborn
Male
Staphylococcal Infections
Vestibular Diseases
