A case of Kabuki syndrome with short stature
- VernacularTitle:伴身材矮小的Kabuki综合征一例
- Author:
Bingchen ZHU
1
;
Lijia CUI
1
;
Wan SU
1
;
Lin LU
1
;
Weibo XIA
1
;
Huijuan ZHU
1
;
Hongbo YANG
1
Author Information
- Publication Type:Journal Article
- Keywords: Kabuki syndrome; Growth hormone; Short stature
- From: Chinese Journal of Endocrinology and Metabolism 2025;41(6):511-514
- CountryChina
- Language:Chinese
- Abstract: This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.
