• 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

一种伴有全身硬化和骨骼成熟提前的致死性骨骼发育异常：布洛姆斯特兰德软骨发育不良？

A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

作者信息

Young I D, Zuccollo J M, Broderick N J

机构信息

Department of Clinical Genetics, City Hospital, Nottingham.

出版信息

J Med Genet. 1993 Feb;30(2):155-7. doi: 10.1136/jmg.30.2.155.

DOI:10.1136/jmg.30.2.155
PMID:8445622
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016275/
Abstract

The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance.

摘要

本文报道了一名疑似患有布洛姆斯特兰德软骨发育不良婴儿的临床和放射学特征。这种罕见的致死性疾病的特征是骨密度增加和骨骼成熟提前。父母近亲结婚的高发生率与常染色体隐性遗传相符。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/8949e26f4365/jmedgene00004-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/22016c4b0211/jmedgene00004-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/d37d70eb331a/jmedgene00004-0069-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/0381f875985b/jmedgene00004-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/8949e26f4365/jmedgene00004-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/22016c4b0211/jmedgene00004-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/d37d70eb331a/jmedgene00004-0069-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/0381f875985b/jmedgene00004-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/432b/1016275/8949e26f4365/jmedgene00004-0070-b.jpg

相似文献

1
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?一种伴有全身硬化和骨骼成熟提前的致死性骨骼发育异常：布洛姆斯特兰德软骨发育不良？
J Med Genet. 1993 Feb;30(2):155-7. doi: 10.1136/jmg.30.2.155.
2
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
Am J Med Genet. 1997 Aug 22;71(3):283-8. doi: 10.1002/(sici)1096-8628(19970822)71:3<283::aid-ajmg7>3.0.co;2-v.
3
Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.
Pediatr Radiol. 1999 Nov;29(11):842-5. doi: 10.1007/s002470050709.
4
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.孕早期诊断布洛姆斯特兰德致死性骨软骨发育不良。
Am J Med Genet. 1997 Dec 19;73(3):345-50.
5
Blomstrand lethal osteochondrodysplasia.
Am J Med Genet. 1996 May 3;63(1):84-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<84::AID-AJMG17>3.0.CO;2-Q.
6
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.
Virchows Arch. 2000 Jan;436(1):28-35. doi: 10.1007/pl00008195.
7
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.
J Matern Fetal Neonatal Med. 2017 May;30(9):1041-1044. doi: 10.1080/14767058.2016.1199675. Epub 2016 Aug 10.
8
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.一种伴有蜗牛样骨盆的独特致死性新生儿软骨发育不良：蜗牛样骨盆发育不良。
Am J Med Genet. 1986 Sep;25(1):47-59. doi: 10.1002/ajmg.1320250107.
9
Fibrochondrogenesis.
Indian J Pediatr. 2005 Apr;72(4):355-7.
10
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.纤维软骨生成：一种致死性常染色体隐性软骨发育不良，具有独特的软骨组织病理学特征。
Am J Med Genet. 1984 Oct;19(2):265-75. doi: 10.1002/ajmg.1320190209.

引用本文的文献

1
Human diseases caused by homozygous PTH1R mutations.由纯合型甲状旁腺激素1型受体（PTH1R）突变引起的人类疾病。
Front Endocrinol (Lausanne). 2025 Aug 19;16:1641292. doi: 10.3389/fendo.2025.1641292. eCollection 2025.
2
The association between environmental lead exposure and bone density in children.儿童环境铅暴露与骨密度之间的关联。
Environ Health Perspect. 2004 Aug;112(11):1200-3. doi: 10.1289/ehp.6555.
3
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

本文引用的文献

1
The lethal multiple pterygium syndromes.致死性多发性翼状胬肉综合征
Am J Med Genet. 1984 Apr;17(4):803-7. doi: 10.1002/ajmg.1320170410.
2
A case of lethal congenital dwarfism with accelerated skeletal maturation.一例伴有骨骼成熟加速的致死性先天性侏儒症。
Pediatr Radiol. 1985;15(2):141-3. doi: 10.1007/BF02388725.
布洛姆斯特兰德软骨发育异常中甲状旁腺激素和甲状旁腺激素相关肽功能性受体的缺失。
J Clin Invest. 1998 Jul 1;102(1):34-40. doi: 10.1172/JCI2918.