Kabuki syndrome: two case report

  •  LI Jieling ,
  • CAO Jie
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  • Department of Medical General Ward, Children’s Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; China International Science and Technology Cooperation Base of Child Development and Critical Disorders; Chongqing Key Laboratory of Pediatrics, Chongqing 40014, China

Received date: 2018-01-15

  Online published: 2018-01-15

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.

Cite this article

 LI Jieling , CAO Jie . Kabuki syndrome: two case report[J]. Journal of Clinical Pediatrics, 2018 , 36(1) : 53 . DOI: 10.3969/j.issn.1000-3606.2018.01.012

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