Kabuki syndrome (KS) is a rare heterogeneous phenotypic genetic syndrome, characterized by hypotonia, developmental delay and/or intellectual disability with typical facial features. It is challenging to diagnose KS in newborn and young infant. We report a Thai girl who presented with two rare co‐occurrence phenotypes, hyperinsulinemic hypoglycemia and midgut malrotation. She had not have distinctive facial dysmorphism during neonatal period. At 4 months of age, she had poor weight gain with some facial features suggestive KS. Singleton whole exome sequencing (WES) was carried out followed by Sanger sequencing of the supposed variant. The result indicated a novel de novo heterozygous KMT2D mutation, c.15364A>T (p.Lys5122*), confirming KS. Our patient revealed rare clinical manifestations from the diverse population and address the benefit of WES in establishing early diagnosis of KS before typical facial gestalt exhibited, which allows timely and appropriate management to maximize developmental achievement.

中文翻译：

---

Kabuki综合征伴中肠旋转不良和高胰岛素血症性低血糖：泰国罕见的同时发生。

歌舞uki综合症（KS）是一种罕见的异型表型遗传综合症，其特征是肌张力低下，发育迟缓和/或具有典型面部特征的智力残疾。在新生儿和幼儿中诊断KS具有挑战性。我们报道了一个泰国女孩，她出现两种罕见的共现表型，即高胰岛素低血糖和中肠旋转不良。她在新生儿期没有明显的面部畸形。在4个月大时，她的体重增加不佳，并且有一些面部特征提示KS。进行单例全外显子组测序（WES），然后对假定的变体进行Sanger测序。结果表明新型的杂合KMT2D突变，c.15364A> T（p.Lys5122 *），确认为KS。我们的患者从不同人群中发现了罕见的临床表现，并且在典型的面部格式塔特出现之前，发现了WES在建立KS早期诊断中的优势，这使得及时，适当的管理可以最大化发展成就。