先天性多发性外生性昏迷伴先天性心脏病

Q4 Medicine
I. Aliyu, T. Lawal
{"title":"先天性多发性外生性昏迷伴先天性心脏病","authors":"I. Aliyu, T. Lawal","doi":"10.4103/MJDRDYPU.MJDRDYPU_50_17","DOIUrl":null,"url":null,"abstract":"Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis). This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.","PeriodicalId":36033,"journal":{"name":"Medical Journal of Dr. D.Y. Patil University","volume":"10 1","pages":"592 - 594"},"PeriodicalIF":0.0000,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital multiple exostoses with congenital heart disease\",\"authors\":\"I. Aliyu, T. Lawal\",\"doi\":\"10.4103/MJDRDYPU.MJDRDYPU_50_17\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis). This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.\",\"PeriodicalId\":36033,\"journal\":{\"name\":\"Medical Journal of Dr. D.Y. Patil University\",\"volume\":\"10 1\",\"pages\":\"592 - 594\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medical Journal of Dr. D.Y. Patil University\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/MJDRDYPU.MJDRDYPU_50_17\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medical Journal of Dr. D.Y. Patil University","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/MJDRDYPU.MJDRDYPU_50_17","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

多发性外泌体是一种罕见的疾病。估计发生在1;50000次怀孕。它出现在生命的第一个十年内,具有常染色体遗传模式;尽管在10%的病例中它与自发突变有关。它被称为遗传性多发性骨软骨瘤、遗传性多骨软骨瘤,为了符合这种诊断,应该有两个或两个以上的骨软骨瘤;通常,软骨来源的长骨,如四肢长骨,大多受影响,通常保留面部,这些外生骨疣是生长板附近(干骺端和骨骺端)出现的骨软骨瘤。这篇通讯强调了一例42天大的女性在孕7个月时分娩到非血源性家庭环境中;她因抽搐和吮吸不畅而入院;她是双胞胎中的第二个;第一对双胞胎基本上是健康的。没有发烧或呼吸困难的病史。分娩是在家里进行的,据说她出生时很小,没有测量出生体重,哭得很厉害。经检查,她消瘦,体重1.4公斤,身长34厘米,枕额围29厘米。下肢畸形,双胫骨出现外骨骼病;她还患有室间隔缺损。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital multiple exostoses with congenital heart disease
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis). This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.
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
CiteScore
0.30
自引率
0.00%
发文量
0
审稿时长
31 weeks
×
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