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

Ⅰ型神经纤维瘤病骨骼表现及骨代谢异常的研究进展 被引量：6

原文传递
导出
摘要 Ⅰ型神经纤维瘤病（type 1 neurofibromatosis，NF1）也称Vo nRecklinghausen病或周围型神经纤维瘤病，是一种常染色体显性遗传性疾病，发病率为1／3000～1／3500，其中50％来自基因突变，是突变率最高的遗传性疾病之一。美国国立卫生研究所于1987年提出了NF1的临床诊断标准，具有以下2项以上临床表现即可诊断：
作者 王守丰 邱勇
机构地区 南京大学医学院附属鼓楼医院骨科
出处 《中华外科杂志》 CAS CSCD 北大核心 2010年第15期1187-1189,共3页 Chinese Journal of Surgery
关键词 Ⅰ型神经纤维瘤病 骨代谢异常 常染色体显性遗传性疾病 美国国立卫生研究所 临床诊断标准 骨骼 基因突变 临床表现
分类号 R739.41 [医药卫生—肿瘤]
  • 相关文献

参考文献22

  • 1Rasmussen SA,Friedman JM.NF1 gene and neurofibromatosis 1.Am J Epidemiol,2000,151:33-40.
  • 2Stumpf DA,Alksne JF,Annegers JF,et al.Neurofibromatosis conference statement national institutes of health consensus development conference.Arch Neurol,1988,45:575-578.
  • 3Friedman JM,Birch PH.Type 1 neurofibromatosis:a descriptive analysis of the disorder in 1,728 patients.Am J Med Genet,1997,70:138-143.
  • 4Poyhonen MA.clinical assessment of neurofibromatosis type 1(NF1) and segmental NF in northern Finland.J Med Genet,2000,37:E43.
  • 5Funasaki H,Winter RB,Lonstein JB,et al.Pathophysiology of spinal deformities in neurofibromatosis.J Bone J Surg Am,1994,76:692 -700.
  • 6朱锋,邱勇,王斌,俞杨,朱泽章.神经纤维瘤病致营养不良性脊柱侧凸的影像学特征和临床意义[J].脊柱外科杂志,2003,1(2):68-71. 被引量：20
  • 7Friedman JM,Birch PH.Type 1 neurofibromatosis:a descriptive analysis of the disorder in 1,728 patients.Am J Med Genet,1997,70:138-143.
  • 8Stevenson DA,Birch PH,Friedman JM,et al.Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.Am J Med Genet,1999,84:413-419.
  • 9Jacquemin C,Bosley TM,Liu D,et al.Reassessment of sphenoid dysplasia associated with Neurofibromatosis type 1.Am J Neuroradiol,2002,23:644-648.
  • 10Alwan S,Armstrong L,Joe H,et al.Associations of osseous abnormalities in Neurofibromatosis 1.Am J Med Genet A,2007,143:1326-1333.

二级参考文献20

  • 1[1]Disimone RE, Berman AT, Schwentker EP. The orthopaedic manifestation of neurofibromatosis[J]. Clin Orthop,1988,230:277-283
  • 2[2]Akbarnia BA, Gabriel KR, Beckman E,et al. Prevalence of scoliosis in neurofibromatosis[J]. Spine 1992,17(Suppl):244-248
  • 3[3]Crawford AH. Neurofibromatosis. In: Weinstein SL, ed. The Pediatric Spine[M]. New York: Raven Press, Ltd,1994:619-649
  • 4[4]Funasaki H, Winter RB, Lonstein JB,et al. Pathophysiology of spinal deformities in neurofibromatosis[J]. J Bone Joint Surg[Am],1994,76:692-700
  • 5[5]National Institutes of Health Consensus Development Conference (1988), Neurofibromatosis. Neurofibromatosis [J],1988,1:172-178
  • 6[6]Ogilvie JW. Neurofibromatosis. In: Moe JH, ed. Textbook of scoliosis and other spinal deformities[M], 3rd ed. Philadelphia,WB Saunders Company, 1995:337-347
  • 7[8]Funasaki H, Winter RB, Lonstein JB,et al. Pathophysiology of spinal deformities in neurofibromatosis: An analysis of seventy-one patients who had curves associated with dystrophic changes[J]. J Bone Joint Surg [Am],1994,76:692-700
  • 8[9]Durrani AA, Crawford AH, Chouhdry SN,et al. Modulation of spinal deformities in patients with neurofibromatosis type 1[J]. Spine,2000,25:69-75
  • 9[10]Illes T, Halmai V, De Jonge T,et al. Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities[J]. Osteoporos Int ,2001,12:823-827
  • 10[11]Sirois JL III, Drennan JC. Dystrophic spinal deformity in neurofibromatosis[J]. J Pediatr Orthop,1990,10:522-526

共引文献19

同被引文献54

  • 1朱锋,邱勇,王斌,俞杨,朱泽章.神经纤维瘤病致营养不良性脊柱侧凸的影像学特征和临床意义[J].脊柱外科杂志,2003,1(2):68-71. 被引量：20
  • 2王坚,朱雄增.软组织肿瘤病理学[M].北京:人民卫生出版社.2008:81-84,124-126.
  • 3陈晖,熊进,陈一心,宋知非,骆东山,邱勇.神经纤维瘤病患者尺桡骨骨折术后假关节二例[J].江苏医药,2007,33(8):864-864. 被引量：1
  • 4赵辨.中国临床皮肤病学[M].南京:江苏科学技术出版社,2011.
  • 5Mautner VF, Friedrich RE, yon Deinding A, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis type 1 :MRI supports the diagnosis of malignant plexiform neurofibroma [ J ]. Neuroradiology, 2003, 45 ( 9 ) : 618 - 625.
  • 6Upadhyaya M. Genetic basis of tumorigenesis in NF1 malignant peripherial nerve sheath tumors [J]. Front Biosci, 2011, 16: 937 - 951.
  • 7Godfrey GJ, Farghaly H. Lymph node metastasis of malignant peripheral nerve sheath tumor in the absence of widespread disease five years after diagnosis: a rare finding[J]. Int J Clin Exp Pathol,2010, 3(8) :812 -814.
  • 8Seitz S, Schnabel C, Busse B, et al. High bone turnover and accumulation of osteoid in palients with neurofibromatosis 1 [J]. Ostcoporos Int, 2010, 21 ( 1 ) : 119 - 127.
  • 9Kawachi R, Takei H, Furuyashiki G, et al. A malignant peripheral nerve sheath tumor of the mediastinum in a patient with neurofibromatosis type 1: report of a case[J]. Surg Today, 2008, 38 ( 10 ) :945 - 947.
  • 10郭爱桃,刘爱军,韦立新.恶性外周神经鞘稍伴多向分化临床病理观察[J].诊断病理学尔志,2010,17(6):435-438.

引证文献6

二级引证文献9

中华外科杂志
2010年 第15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