期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

毛发-鼻-指(趾)综合征及扫描电镜观察 被引量：6

A case of Langer-Giedion syndrome
下载PDF
导出
摘要 报告1例毛发-鼻-指(趾)综合征(Langer-Giedion综合征)及扫描电镜观察。患者女,16岁。主要临床表现为毛发稀疏、生长缓慢,梨形鼻,指、趾异常,点状白甲,面部雀斑及智力发育异常。扫描电镜显示毛发病变严重,毛小皮细胞折叠、剥蚀和发干断裂等表现。 A ease of Langer-Giedion syndrome is reported here. A 16-year-old girl presented with sparse, slowly growing scalp hair, pear-shaped nose, elinobrachydactylia of the fingers and toes, leukonyehia puneta, facial freckles and mental retardation. Scanning electron microscopy revealed severely injured hair, folded cuticle cells and rhexis leading to ＂finger-end＂ fractures.
作者 陈琢 范卫新 于燕华 李中明 葛以信
机构地区 南京医科大学第一附属医院皮肤性病科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2010年第4期221-222,共2页 Journal of Clinical Dermatology
关键词 毛发-鼻-指(趾)综合征 毛发 扫描电镜 Langer-Giedion syndrome hair scanning electron microscopy
分类号 R758.5 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献4

  • 1Vaecaro M,Guarneri C,Blandino A.Trichorhinophalangeal syndrome[J].J Am Acad Dermatol,2005,53(5):858-860.
  • 2Lalevic-Vasic BM,Nikolic MM,Polic DJ.Study of hair in type I tricho-rhino-phaiangeal syndrome[J].Ann Dermatol Venereol,1994,121(9):618-622.
  • 3Seitz CS,Ladecke Hl,Wagner N,et al.Trichorhinophalangeal syndrome type I:clinical and molecular characterization of 3 members of a family and I sporadic ease[J].Arch Dermatol,2001,137(11):1437-1442.
  • 4Van Neste D,Dumortier M.Trieho-rhino-phalangeal syndrome.Disturbed geometric relationships between hair matrix and dermal papilla in scalp hair bulbs[J].Dermatologica,1982,165(1):16-23.

同被引文献46

  • 1陈柳青,曾学思,姜祎群,张荣林,李阿梅,孙建方.毛发-鼻-指(趾)综合征[J].临床皮肤科杂志,2006,35(11):711-712. 被引量：1
  • 2Vaccaro M,Guarneri C,Blandino A.Trichorhinophalangeal syndrome.J Am Acad Dermatol,2005,53(5):858-860.
  • 3Lalevic-Vasic BM,Nikolic MM,Polic DJ.Study of hair in type Ⅰtricho-rhino-phaiangead syndrome.Ann Dermatol Venereol,1994,121(9):618-622.
  • 4Carrington PR Chen H,Altick JA.Trichorhinophalangeal syndrome,type Ⅰ.J Am Aead Dermatol,1994,31(2):331-336.
  • 5Giedion A, Burdea M, Fruchter Z, et al. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases . Helv Paediatr Acta, 1973, 28(3): 249-259.
  • 6Giedion A. Tricho-rhino-phalangeal syndrome . Helv Paediatr Acta, 1966, 21 (5) : 475-485.
  • 7Vaccaro M, Guarneri C, Blandino A. Trichorhinophalangeal syndrome . J Am Acad Dermatol, 2005, 53(5) : 858-860.
  • 8Momeni P, G1fckner G, Schmidt O, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhinophalangeal syndrome type I . Nat Genet, 2000, 24( 1 ) : 71-74.
  • 9Ludecke HI, Schmidt O, Nardmann J, et al. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum Genet, 1999, 105 (6) : 619528.
  • 10Btihler EM, Btlhler UK, Beutler C, et al. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet, 1987, 31 (4) : 273 -275.

引证文献6

二级引证文献7

临床皮肤科杂志
2010年 第4期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部