title: Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.
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.
authors.affiliation: Greenwood Genetic Center, Columbia, S.C., USA.
authors.forename: Y A
authors.initials: YA
authors.lastname: Zarate
authors.forename: H
authors.initials: H
authors.lastname: Zhan
authors.forename: J R
authors.initials: JR
authors.lastname: Jones