患有歌舞伎综合征 I 型的极低出生体重儿(胎龄 29 周):病例报告与文献综述。

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Qi Li, Yuzhu Zheng, Xinyuan Guo, Jiang Xue
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引用次数: 0

摘要

背景:本文旨在研究早产儿歌舞伎综合征(KS)的临床表型:本文旨在研究早产儿歌舞伎综合征(KS)的临床表型:本文介绍了一例由 KMT2D 基因变异引起的 KS1 超低出生体重儿(胎龄 29 周)。本文对该病例的临床、病理和鉴别诊断结果进行了全面分析。为了加深对 KS 的了解,我们还进行了全面的文献综述,揭示了 KS 的独特特征和预后意义:婴儿为男性,胎龄 29 周,出生体重 850 克。他患有宫内发育迟缓,表现为腭裂、骶尾部皮肤凹陷和反复代谢性酸中毒。全外显子组测序结果显示,KMT2D基因中存在c.4267C > T (p.Arg1423Cys)变异,而他的父母不存在该变异。患者在接受治疗 67 天后出院,随访至矫正胎龄 19 个月,出现生长迟缓和语言表达迟缓。我们检索了之前关于早产儿的 10 项研究,共发现 10 名早产儿。他们都有特征性的面部特征,如长睑下垂、眉毛稀疏且偏外侧 1/3、耳朵大且突出/卷曲。其他表现包括宫外发育迟缓(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):结论:歌舞伎综合征是一种罕见的遗传性疾病,涉及多个器官和系统。建议对有先天性异常的早产儿进行遗传评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.

Background: This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants.

Methods: 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.

Results: 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).

Conclusions: Kabuki syndrome is a rare hereditary disorder involving multiple organs and systems. Genetic assessment for preterm infants with congenital abnormalities is recommended.

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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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