新生儿歌舞伎综合征2例报告

Q4 Medicine

中华围产医学杂志 Pub Date : 2019-06-16 DOI:10.3760/CMA.J.ISSN.1007-9408.2019.06.010

Wen Jiang, Li-Ping Chen, Lijun Yi, Hong Li, Lin Yang, Bingbing Wu

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引用次数: 0

摘要

本文报告了两例新生儿歌舞伎综合征（KS）的诊断和治疗。两人在新生儿期均无典型的KS面部特征，但均表现为反应差、外观异常和多器官发育不良。病例1出院后失访，而在出生后三个月的随访中，病例2逐渐出现典型的KS面部特征，包括下侧眼睑外翻、眉毛拱形、眉弓稀疏、鼻尖扁平、耳朵突出。下一代测序显示，两名新生儿都是由赖氨酸甲基转移酶2D（KMT2D）基因突变引起的KS，其中病例1在KMT2D基因中有一个c.13895delC（p.P4632HfsTer8）的杂合缺失突变，而病例2在KMT2D基因中有c.12809dupA（p.T4271Dfs*63）的杂合子重复突变。这两个病例都被定义为新发突变，病例2携带的病例是新发现的致病性突变。关键词：异常，多重；面部；血液病；前庭疾病；DNA结合蛋白；肿瘤蛋白；婴儿、新生儿

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Neonatal Kabuki syndrome: a report of two cases

This paper reported the diagnosis and treatment of two neonates with Kabuki syndrome (KS). Neither of them had typical facial features of KS during the neonatal period, but poor response, abnormal appearance and multiple organ dysplasia were observed in both. Case 1 was lost to follow up after discharge, while typical KS facial features were gradually appeared in Case 2 including eversion of lower lateral eyelids, arched eyebrows, sparse eyebrow arch, flattened nasal tip, prominent ears, during a three-month follow-up after birth. Next-generation sequencing revealed that both neonates were KS caused by lysine methyltransferase 2D (KMT2D) gene mutation, of which case 1 had a heterozygous deletion mutation of c.13895delC (p.P4632HfsTer8) in KMT2D gene, while case 2 had a heterozygous repeat mutation of c.12809dupA (p.T4271Dfs*63) in KMT2D gene. Both cases were defined as de novo mutations and the one carried by case 2 was a newly discovered pathogenic mutation. Key words: Abnormalities, multiple; Face; Hematologic diseases; Vestibular diseases; DNA-binding proteins; Neoplasm proteins; Infant, newborn

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来源期刊

中华围产医学杂志 Medicine-Obstetrics and Gynecology

CiteScore

0.70

自引率

0.00%

发文量

4446

期刊介绍： Chinese Journal of Perinatal Medicine was founded in May 1998. It is one of the journals of the Chinese Medical Association, which is supervised by the China Association for Science and Technology, sponsored by the Chinese Medical Association, and hosted by Peking University First Hospital. Perinatal medicine is a new discipline jointly studied by obstetrics and neonatology. The purpose of this journal is to "prenatal and postnatal care, improve the quality of the newborn population, and ensure the safety and health of mothers and infants". It reflects the new theories, new technologies, and new progress in perinatal medicine in related disciplines such as basic, clinical and preventive medicine, genetics, and sociology. It aims to provide a window and platform for academic exchanges, information transmission, and understanding of the development trends of domestic and foreign perinatal medicine for the majority of perinatal medicine workers in my country.