• 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

外周发育异常。一种新的遗传综合征报告。

Peripheral dysplasia. Report of a new genetic syndrome.

作者信息

Bacha L, Brachimi L, Kozlowski K, Massen R, Morris L

机构信息

Centre Medico-Pedagogique pour Handicapes Moteur El-Harrach, Alger, Algeria.

出版信息

Pediatr Radiol. 1989;19(3):193-8. doi: 10.1007/BF02388655.

DOI:10.1007/BF02388655
PMID:2717253
Abstract

A new, dominantly inherited form of peripheral dysplasia in three members of an Algerian family is reported. Two further individuals, not investigated, are also probably affected. The disease is characterised by distinctive clinico-radiological findings. A case of acromesomelic dysplasia of Maroteaux is also reported and the differential diagnosis of peripheral dysplasias is discussed.

摘要

报道了一个阿尔及利亚家庭中三名成员患有一种新的、显性遗传的周围性发育异常。另外两名未接受检查的个体可能也受到了影响。该疾病的特征是独特的临床放射学表现。还报道了一例马罗托型肢端中胚层发育异常,并讨论了周围性发育异常的鉴别诊断。

相似文献

1
Peripheral dysplasia. Report of a new genetic syndrome.外周发育异常。一种新的遗传综合征报告。
Pediatr Radiol. 1989;19(3):193-8. doi: 10.1007/BF02388655.
2
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases.
Pediatr Radiol. 1988;18(3):221-6. doi: 10.1007/BF02390399.
3
[Epiphyseal dysplasias. Study of a family with multiple epiphyseal dysplasia].[骨骺发育异常。一个患有多发性骨骺发育异常的家族的研究]
Bol Med Hosp Infant Mex. 1984 Aug;41(8):447-54.
4
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome.
Am J Med Genet. 1991 Sep 1;40(3):304-6. doi: 10.1002/ajmg.1320400311.
5
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.伴有趾发育不全的显性遗传性进行性假类风湿性发育异常
Skeletal Radiol. 2004 Mar;33(3):157-64. doi: 10.1007/s00256-003-0708-z. Epub 2004 Jan 17.
6
Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family.
Pediatr Radiol. 1993;23(4):321-4. doi: 10.1007/BF02010928.
7
Spondylometaphyseal dysplasia: further heterogeneity.脊椎干骺端发育不良:更多的异质性。
Skeletal Radiol. 1988;17(3):181-6. doi: 10.1007/BF00351004.
8
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome.
Am J Med Genet. 1990 Jul;36(3):288-91. doi: 10.1002/ajmg.1320360308.
9
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.马罗托克斯型脊椎-干骺端发育不良(假性粘多糖贮积症 2 型)和副韧帯营养不良症是由 TRPV4 突变引起的。
Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.
10
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.排除9号染色体有助于识别马罗托型肢端中胚层发育不良的轻度变异型。
J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52.

本文引用的文献

1
Peripheral dysostosis.
Am J Roentgenol Radium Ther Nucl Med. 1960 Sep;84:499-505.
2
Hereditary peripheral dysostosis (three cases).遗传性周围性骨发育不全(3例)
Proc R Soc Med. 1967 Jan;60(1):21-2. doi: 10.1177/003591576706000112.
3
Roentgenographic manifestations of hereditary peripheral dysostosis.遗传性周围性骨发育不全的X线表现
Am J Roentgenol Radium Ther Nucl Med. 1969 May;106(1):178-89. doi: 10.2214/ajr.106.1.178.
4
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.肢端发育不全症。一种外周性骨发育不全、鼻发育不全和智力迟钝的综合征。
Am J Dis Child. 1971 Mar;121(3):195-203.
5
[Peripheral dysostosis (PD)--a collective concept].
Fortschr Geb Rontgenstr Nuklearmed. 1969 Apr;110(4):507-24.
6
[Acrodysostosis].[肢端发育不全症]
Presse Med (1893). 1968 Nov 27;76(46):2189-92.
7
[Acromesomelic dwarfism].
Presse Med (1893). 1971 Oct 9;79(42):1839-42.
8
Peripheral dysostosis: an autosomal recessive form.外周性骨发育不全:一种常染色体隐性遗传形式。
Birth Defects Orig Artic Ser. 1974;10(12):137-46.
9
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.
Radiology. 1977 Jun;123(3):707-18. doi: 10.1148/123.3.707.
10
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.肢端发育不全合并假性甲状旁腺功能减退和假-假性甲状旁腺功能减退。
AJR Am J Roentgenol. 1977 Jan;128(1):95-9. doi: 10.2214/ajr.128.1.95.