Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

TitleInfrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.
Publication TypeJournal Article
Year of Publication2012
AuthorsZarate YA, Zhan H, Jones JR
JournalMol Syndromol
Volume3
Issue4
Pagination180-4
Date Published2012 Oct
ISSN1661-8769
Abstract

We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense MLL2 mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped.

DOI10.1159/000342253
Alternate JournalMol Syndromol
Citation Key1216
PubMed ID23239960