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

被引：19
作者：
Zarate, Y. A. [1 ]
Zhan, H. [1 ,2 ]
Jones, J. R. [1 ,2 ]
机构：
[1] Greenwood Genet Ctr, 1911 Thurmond Mall, Columbia, SC 29201 USA
[2] Greenwood Genet Ctr, Mol Diagnost Lab, Greenwood, SC 29646 USA
来源：
MOLECULAR SYNDROMOLOGY | 2012年 / 3卷 / 04期
关键词：
Diaphragmatic hernia; Hypoglycemia; Kabuki syndrome; MLL2;
D O I：
10.1159/000342253
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. Copyright (C) 2012 S. Karger AG, Basel
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收藏
页码：180 / 184
页数：5
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