Kabuki Syndrome: Two Cases of Taiwanese Children

被引：0

作者：

Chang, C. Y. ^{[1
]}

机构：

[1] Mackay Mem Hosp, Dept Pediat, 690,Sec 2,Guangfu Rd, Hsinchu 30071, Taiwan

来源：

HONG KONG JOURNAL OF PAEDIATRICS | 2017年 / 22卷 / 03期

关键词：

Clinodactyly; Finger pads; Kabuki syndrome (KS); Long palpebral fissures; MAKE-UP SYNDROME;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report 2 cases of Kabuki syndrome (KS) with MLL2 gene mutation. The first patient showed c.10440+2, T>G alteration of the MLL2 gene, which is a novel mutation that is not documented in the literature. The second patient exhibited 2 heterozygous mutations: c. 13606C>T mutation (in exon 40) and c. 13839+89dupTGACGT (IVS41+89dupGACGT). The c. 13606C>T mutation caused an amino acid change of p. Arg4536X, which has been associated with KS. However, c. 13839+89dupTGACGT (IVS41+89dupGACGT) is an unknown variant or novel mutation. Both patients had typical facial features with long palpebral fissures, sparse and arched eyebrows, and large protruding ears. They also exhibited cardiac and renal problems and limb abnormality of clinodactyly with high finger pads. They both showed mental and developmental delays, which may have been due to hypotonia and the central origin. On the basis of the aforementioned symptoms, we summarised the cardinal symptoms of KS and determined the diagnostic indications for these patients.

引用

页码：174 / 178

页数：5

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