单亲畸形导致罕见的少年型ALS。

Yigit Karasozen, Kazim A Sheikh, Pedro Mancias, Thy P Nguyen
{"title":"单亲畸形导致罕见的少年型ALS。","authors":"Yigit Karasozen, Kazim A Sheikh, Pedro Mancias, Thy P Nguyen","doi":"10.26502/jppch.74050049","DOIUrl":null,"url":null,"abstract":"2. Case Presentation Our patient is a 27 year old woman of Nicaraguan descent, who presented to to an orthopedist for toe walking at age 5. She was born to a 31 year old G2P2 mother via vaginal delivery after a full term, uncomplicated gestation. She met all early milestones for motor, language, cognitive, and social development until she started to show symptoms at the age of 4. Over the years, she developed progressive symptoms of muscle weakness with significant atrophy involving her distal arms and legs with development of bilateral pes cavus deformities, foot drop and significant intrinsic hand weakness.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"4 4","pages":"107-110"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592712/pdf/","citationCount":"1","resultStr":"{\"title\":\"Uniparental Disomy Leading to a Rare Juvenile Form of ALS.\",\"authors\":\"Yigit Karasozen, Kazim A Sheikh, Pedro Mancias, Thy P Nguyen\",\"doi\":\"10.26502/jppch.74050049\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"2. Case Presentation Our patient is a 27 year old woman of Nicaraguan descent, who presented to to an orthopedist for toe walking at age 5. She was born to a 31 year old G2P2 mother via vaginal delivery after a full term, uncomplicated gestation. She met all early milestones for motor, language, cognitive, and social development until she started to show symptoms at the age of 4. Over the years, she developed progressive symptoms of muscle weakness with significant atrophy involving her distal arms and legs with development of bilateral pes cavus deformities, foot drop and significant intrinsic hand weakness.\",\"PeriodicalId\":73894,\"journal\":{\"name\":\"Journal of pediatrics, perinatology and child health\",\"volume\":\"4 4\",\"pages\":\"107-110\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592712/pdf/\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatrics, perinatology and child health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26502/jppch.74050049\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/10/10 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatrics, perinatology and child health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26502/jppch.74050049","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/10/10 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

摘要

本文章由计算机程序翻译,如有差异,请以英文原文为准。
Uniparental Disomy Leading to a Rare Juvenile Form of ALS.
2. Case Presentation Our patient is a 27 year old woman of Nicaraguan descent, who presented to to an orthopedist for toe walking at age 5. She was born to a 31 year old G2P2 mother via vaginal delivery after a full term, uncomplicated gestation. She met all early milestones for motor, language, cognitive, and social development until she started to show symptoms at the age of 4. Over the years, she developed progressive symptoms of muscle weakness with significant atrophy involving her distal arms and legs with development of bilateral pes cavus deformities, foot drop and significant intrinsic hand weakness.
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
自引率
0.00%
发文量
0
×
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