Kabuki syndrome:two case report
10.3969/j.issn.1000-3606.2018.01.012
- VernacularTitle:Kabuki综合征2例报告
- Author:
Jieling LI
1
;
Jie CAO
Author Information
1. 重庆医科大学附属儿童医院内科全科 儿童发育疾病研究教育部重点实验室 儿童发育重大疾病国家国际科技合作基地 儿科学重庆市重点实验室 重庆 400010
- Keywords:
Kabuki syndrome;
clinical characteristics;
gene detection;
KMT2D gene mutation
- From:
Journal of Clinical Pediatrics
2018;36(1):53-56
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical features and genetic diagnosis of Kabuki syndrome. Methods The clinical data of Kabuki syndrome in 2 children were retrospectively analyzed. Results Both of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indicated that both of them had mutation in KMT2D (or MLL2) gene, but the clinical phenotypes were different. Conclusion Children with clinically suspected Kabuki syndrome can be confirmed by gene detection.
