Neonatal Pediatrics, Shandong University Second Hospital, Jinan, Shandong, China.
Pediatric, The Fourth Affiliated of Soochow University, Suzhou, Jiangsu, China.
Mol Genet Genomic Med. 2024 Oct;12(10):e70025. doi: 10.1002/mgg3.70025.
This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants.
This paper presents a case of an extremely low birth weight infant (gestational age 29 weeks) with KS1 caused by a variant in the KMT2D gene. The clinical, pathological, and differential diagnostic findings were comprehensively analyzed. A thorough literature review was also performed to enhance the understanding of KS, revealing its unique features and prognostic significance.
The infant was a male with a gestational age of 29 weeks and a birth weight of 850 g. He had intrauterine growth retardation, characterized by cleft palate, sacrococcygeal skin depressions, and recurrent metabolic acidosis. Whole-exome sequencing revealed the c.4267C > T (p.Arg1423Cys) variant in the KMT2D gene, which was absent in his parents. The patient was discharged after 67 days of treatment, and he was followed up to 19 months of corrected gestational age, with growth retardation and expression language delay. Ten previous studies on preterm infants were retrieved, with 10 preterm infants. They all had characteristic facial features, such as long blepharophimosis, sparse and lateral 1/3 eyebrows, and large and prominent/cupped ears. Other manifestations were extrauterine growth delay (7/10), abnormal development of the cardiovascular system (7/10), abnormal development of the nervous system (5/10), and cleft palate (2/10).
Kabuki syndrome is a rare hereditary disorder involving multiple organs and systems. Genetic assessment for preterm infants with congenital abnormalities is recommended.
本研究旨在探讨早产儿卡布克综合征（KS）的临床表型。
本研究报告了一例由 KMT2D 基因突变引起的极早产儿（胎龄 29 周）KS1 病例。对患儿的临床、病理和鉴别诊断资料进行了全面分析，并对其进行了深入的文献复习，以提高对 KS 的认识，揭示其独特的特征和预后意义。
患儿为男性，胎龄 29 周，出生体重 850 g。存在宫内生长受限，表现为腭裂、骶尾部皮肤凹陷和反复代谢性酸中毒。全外显子组测序显示 KMT2D 基因的 c.4267C>T（p.Arg1423Cys）杂合变异，其父母均未携带该变异。患儿经治疗 67 天后出院，随访至校正胎龄 19 个月时，存在生长发育迟缓、语言表达延迟。共检索到 10 例早产患儿的研究，共纳入 10 例早产儿。他们均有特征性的面部特征，如长睑裂、稀疏且外侧 1/3 的眉毛、大和突出/杯状耳朵。其他表现包括宫外生长迟缓（7/10）、心血管系统发育异常（7/10）、神经系统发育异常（5/10）和腭裂（2/10）。
KS 是一种罕见的涉及多器官和系统的遗传性疾病。建议对有先天性异常的早产儿进行遗传评估。
