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Mol Syndromol. 2012 Oct;3(4):180-4. doi: 10.1159/000342253. Epub 2012 Aug 30.

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

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Greenwood Genetic Center, Columbia, S.C., USA.


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.


Diaphragmatic hernia; Hypoglycemia; Kabuki syndrome; MLL2

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