• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

洛里综合征首例病例的尸检。

Necropsy of original case of Lowry's syndrome.

作者信息

Dolman C L, Wright V J

出版信息

J Med Genet. 1978 Jun;15(3):227-9. doi: 10.1136/jmg.15.3.227.

DOI:10.1136/jmg.15.3.227
PMID:671489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013683/
Abstract

The necropsy findings are reported on one of the original sibs of Lowry's syndrome. The child, who died at 7 years of bronchopneumonia, was severely dwarfed, microcephalic, and microphthalmic. The brain was small and extensively calcified, the cerebellar cortex hypoplastic, and the retinae atrophic. There were multiple skeletal and integumental and minor renal abnormalities. The lymphoid tissue was much reduced, and many arteries and arterioles were thickened and narrowed. This constitutes a unique constellation of lesions.

摘要

对洛里综合征最初的一个同胞患儿进行了尸检报告。该患儿7岁时死于支气管肺炎,严重矮小、小头畸形且小眼畸形。脑体积小且广泛钙化,小脑皮质发育不全,视网膜萎缩。存在多处骨骼、皮肤及轻微肾脏异常。淋巴组织大量减少,许多动脉和小动脉增厚且狭窄。这构成了一组独特的病变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/13127e36e331/jmedgene00298-0064-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/6bcf26036c7e/jmedgene00298-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/e1137d6d072c/jmedgene00298-0064-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/13127e36e331/jmedgene00298-0064-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/6bcf26036c7e/jmedgene00298-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/e1137d6d072c/jmedgene00298-0064-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/13127e36e331/jmedgene00298-0064-b.jpg

相似文献

1
Necropsy of original case of Lowry's syndrome.洛里综合征首例病例的尸检。
J Med Genet. 1978 Jun;15(3):227-9. doi: 10.1136/jmg.15.3.227.
2
Cockayne's syndrome. Report of case with necropsy findings.科凯恩综合征。尸检结果病例报告。
Acta Neuropathol. 1969 Sep 9;14(1):52-61. doi: 10.1007/BF00687702.
3
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.同胞中的Ⅰ/Ⅲ型小头畸形骨发育异常原发性侏儒症。
J Med Genet. 1991 Nov;28(11):795-800. doi: 10.1136/jmg.28.11.795.
4
An apparently new syndrome of microcephalic primordial dwarfism and cataracts.一种明显的小头原始侏儒症和白内障新综合征。
Am J Med Genet. 1986 Sep;25(1):1-8. doi: 10.1002/ajmg.1320250102.
5
Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.科凯恩综合征:两例患者的临床研究及一例患者的神经病理学发现
Clin Pediatr (Phila). 1977 Mar;16(3):225-32. doi: 10.1177/000992287701600304.
6
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.LARP7基因变异与原始侏儒症中阿拉扎米综合征表型谱的进一步界定:两姐妹的病例
Eur J Med Genet. 2019 Mar;62(3):161-166. doi: 10.1016/j.ejmg.2018.07.003. Epub 2018 Jul 10.
7
Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs.同胞中出现白内障、轻度小头畸形、智力发育迟缓及佩特兹样改变综合征。
Acta Paediatr Hung. 1990;30(3-4):343-9.
8
Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.同胞中的小头畸形、智力迟钝、白内障和性腺功能减退:马茨索夫综合征。
J Med Genet. 1989 Jun;26(6):397-400. doi: 10.1136/jmg.26.6.397.
9
Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism.
Clin Pediatr (Phila). 1973 Jan;12(1):56-8. doi: 10.1177/000992287301200116.
10
Autosomal recessive microcephaly associated with chorioretinopathy.与脉络膜视网膜病变相关的常染色体隐性小头畸形。
Hum Genet. 1977 Apr 15;36(2):243-7. doi: 10.1007/BF00273265.

引用本文的文献

1
Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.小头畸形、小眼畸形、白内障和关节挛缩综合征。
J Med Genet. 1981 Apr;18(2):129-33. doi: 10.1136/jmg.18.2.129.
2
Microcephaly and intracranial calcification in two brothers.两兄弟的小头畸形和颅内钙化
J Med Genet. 1983 Jun;20(3):210-2. doi: 10.1136/jmg.20.3.210.
3
Genetics of microphthalmos.小眼畸形的遗传学

本文引用的文献

1
The neuropathology of Cockayne's syndrome.科凯恩综合征的神经病理学
J Neuropathol Exp Neurol. 1967 Oct;26(4):654-60. doi: 10.1097/00005072-196710000-00010.
2
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.两名同胞出现白内障、小头畸形、脊柱后凸和关节活动受限:一种新综合征。
J Pediatr. 1971 Aug;79(2):282-4. doi: 10.1016/s0022-3476(71)80114-2.
Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580.
4
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.
J Inherit Metab Dis. 1988;11(1):88-102. doi: 10.1007/BF01800059.
5
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.早发型科凯恩综合征:伴有神经病理学和成纤维细胞研究的病例报告
J Med Genet. 1989 Mar;26(3):154-9. doi: 10.1136/jmg.26.3.154.