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: Y A Zarate, H Zhan, J R Jones
• Journal: Molecular syndromology (Mol Syndromol) Vol. 3 Issue 4 Pg. 180-4 (Oct 2012) ISSN: 1661-8769 [Print] Switzerland
• PMID: 23239960 (Publication Type: Case Reports)