一例环18综合征患者的麻醉管理。

Q3 Medicine
Midori Maekawa, Makoto Yasuda, Haruka Sasaki, Yasuharu Tachinami, Kentaro Mizuta
{"title":"一例环18综合征患者的麻醉管理。","authors":"Midori Maekawa,&nbsp;Makoto Yasuda,&nbsp;Haruka Sasaki,&nbsp;Yasuharu Tachinami,&nbsp;Kentaro Mizuta","doi":"10.2344/anpr-68-03-01","DOIUrl":null,"url":null,"abstract":"<p><p>Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical presentation can be extremely variable, characteristic features usually include craniofacial malformations, delayed development, hypotonia, and other skeletal and congenital heart defects. We report the management of a 20-year-old male with ring chromosome 18 who underwent general anesthesia for dental treatment. Clinical manifestations for this patient included intellectual disability, short stature, hypertelorism, flat nasal bridge, micrognathia, a \"carp-shaped\" mouth, and aortic and pulmonary valve regurgitation. Although mask ventilation and oral intubation were easily performed, nasal intubation was difficult because of rhinostenosis. When providing general anesthesia for a patient with ring chromosome 18, anesthesiologists should evaluate the patient preoperatively for congenital heart defects and prepare for a potential difficult airway.</p>","PeriodicalId":7818,"journal":{"name":"Anesthesia progress","volume":"68 3","pages":"178-179"},"PeriodicalIF":0.0000,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500322/pdf/i0003-3006-68-3-178.pdf","citationCount":"0","resultStr":"{\"title\":\"Anesthetic Management of a Patient With Ring 18 Syndrome.\",\"authors\":\"Midori Maekawa,&nbsp;Makoto Yasuda,&nbsp;Haruka Sasaki,&nbsp;Yasuharu Tachinami,&nbsp;Kentaro Mizuta\",\"doi\":\"10.2344/anpr-68-03-01\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical presentation can be extremely variable, characteristic features usually include craniofacial malformations, delayed development, hypotonia, and other skeletal and congenital heart defects. We report the management of a 20-year-old male with ring chromosome 18 who underwent general anesthesia for dental treatment. Clinical manifestations for this patient included intellectual disability, short stature, hypertelorism, flat nasal bridge, micrognathia, a \\\"carp-shaped\\\" mouth, and aortic and pulmonary valve regurgitation. Although mask ventilation and oral intubation were easily performed, nasal intubation was difficult because of rhinostenosis. When providing general anesthesia for a patient with ring chromosome 18, anesthesiologists should evaluate the patient preoperatively for congenital heart defects and prepare for a potential difficult airway.</p>\",\"PeriodicalId\":7818,\"journal\":{\"name\":\"Anesthesia progress\",\"volume\":\"68 3\",\"pages\":\"178-179\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500322/pdf/i0003-3006-68-3-178.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Anesthesia progress\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2344/anpr-68-03-01\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anesthesia progress","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2344/anpr-68-03-01","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

环18综合征或环18染色体是一种极其罕见的遗传疾病,涉及第18条染色体末端融合形成一个环,通常具有不同程度的遗传物质损失。尽管临床表现可能变化很大,但典型特征通常包括颅面畸形、发育迟缓、张力低下以及其他骨骼和先天性心脏缺陷。我们报告一个20岁的男性环状染色体18谁接受全身麻醉牙科治疗的管理。该患者的临床表现为智力障碍、身材矮小、远端远距、扁平鼻梁、小颌、“鲤鱼形”口、主动脉瓣和肺动脉瓣反流。虽然面罩通气和口腔插管很容易,但由于鼻狭窄,鼻腔插管很困难。当为18号环染色体患者提供全身麻醉时,麻醉医师应在术前评估患者的先天性心脏缺陷,并为潜在的气道困难做好准备。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Anesthetic Management of a Patient With Ring 18 Syndrome.

Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical presentation can be extremely variable, characteristic features usually include craniofacial malformations, delayed development, hypotonia, and other skeletal and congenital heart defects. We report the management of a 20-year-old male with ring chromosome 18 who underwent general anesthesia for dental treatment. Clinical manifestations for this patient included intellectual disability, short stature, hypertelorism, flat nasal bridge, micrognathia, a "carp-shaped" mouth, and aortic and pulmonary valve regurgitation. Although mask ventilation and oral intubation were easily performed, nasal intubation was difficult because of rhinostenosis. When providing general anesthesia for a patient with ring chromosome 18, anesthesiologists should evaluate the patient preoperatively for congenital heart defects and prepare for a potential difficult airway.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Anesthesia progress
Anesthesia progress Medicine-Medicine (all)
CiteScore
0.90
自引率
0.00%
发文量
32
期刊介绍: Anesthesia Progress is a peer-reviewed journal and the official publication of the American Dental Society of Anesthesiology. The journal is dedicated to providing a better understanding of the advances being made in the art and science of pain and anxiety control in dentistry.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信