• 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

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.

作者信息

Romeo G, Zonana J, Lachman R S, Opitz J M, Scott C I, Spranger J W, Rimoin D L

出版信息

Birth Defects Orig Artic Ser. 1977;13(3C):109-15.

PMID:890106
Abstract

We have studied three patients with severe short-limbed dwarfism, only one of whom had the typical features of Grebe disease, whereas the other two had clearly distinct previously unreported skeletal dysplasias. Unlike the patients with Grebe disease, the latter two patients had involvement of the spine and particularly short humeri. The malformations of the hands and lower limbs were different in each of the three patients.

摘要

相似文献

1
Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.
Birth Defects Orig Artic Ser. 1977;13(3C):109-15.
2
Heterogeneity of nonlethal severe short-limbed dwarfism.非致死性严重短肢侏儒症的异质性
J Pediatr. 1977 Dec;91(6):918-23. doi: 10.1016/s0022-3476(77)80890-1.
3
[Short-limbed dwarfism with immunodeficiency, cartilage-hair hypoplasia, metaphyseal chondrodysplasia, Gutti-Lux syndrome].
Ryoikibetsu Shokogun Shirizu. 2000(32):329-31.
4
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.一种严重的常染色体隐性肢端中胚层发育不良，亨特 - 汤普森型，并与格雷贝型进行比较。
Hum Genet. 1989 Mar;81(4):323-8. doi: 10.1007/BF00283684.
5
A unique presentation of immuno-osseous dysplasia.免疫性骨发育异常的一种独特表现。
Pediatr Dermatol. 2006 Jul-Aug;23(4):373-7. doi: 10.1111/j.1525-1470.2006.00260.x.
6
Short-limbed dwarfism-possibly metaphyseal chondrodysplasia-with immunoglobulin deficiency.短肢侏儒症 - 可能为干骺端软骨发育异常 - 伴免疫球蛋白缺乏症
Birth Defects Orig Artic Ser. 1974;10(12):445-7.
7
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.脊椎-干骺端-骨骺发育不良（SMED），短肢-手型：一种具有独特特征和组织病理学表现的先天性家族性骨骼发育不良。
Am J Med Genet. 1993 Feb 1;45(3):320-6. doi: 10.1002/ajmg.1320450308.
8
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.软骨衍生形态发生蛋白1（CDMP1）基因的移码突变与类似Grebe型软骨发育不良的严重肢端中节软骨发育不良。
Am J Med Genet. 2002 Jul 22;111(1):31-7. doi: 10.1002/ajmg.10501.
9
Grebe syndrome: a rare association with congenital heart disease.Grebe综合征：一种与先天性心脏病的罕见关联。
J Coll Physicians Surg Pak. 2012 Apr;22(4):261-3.
10
Fibrochondrogenesis.
Indian J Pediatr. 2005 Apr;72(4):355-7.

引用本文的文献

1
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.Grebe型软骨发育不良：生长分化因子5保守半胱氨酸中的一种新型错义突变。
J Bone Miner Metab. 2008;26(6):648-52. doi: 10.1007/s00774-008-0853-5. Epub 2008 Nov 1.
2
Severe short-limb dwarfism resembling Grebe chondrodysplasia.
Hum Genet. 1986 Dec;74(4):386-90. doi: 10.1007/BF00280491.
3
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.一种严重的常染色体隐性肢端中胚层发育不良，亨特 - 汤普森型，并与格雷贝型进行比较。
Hum Genet. 1989 Mar;81(4):323-8. doi: 10.1007/BF00283684.