摘要
病例:先证者(V6)女,28岁。5岁起发现双侧大腿下端外侧有硬性突起,生长缓慢,无不适,其两兄弟、父亲患有同病,因无症状,不影响生活,无治疗要求,患者本人孕前咨询来我院遗传门诊就诊。体检:生长发育、步态正常,两侧股骨下段外侧可触及鸽蛋大小肿块,左侧1.5cm×1.5cm,右侧1.5cm×1.2cm,质地硬,周围边界清,推之无活动,无压痛,两侧膝关节功能不受限。X线检查:
出处
《中国优生与遗传杂志》
2006年第2期126-126,共1页
Chinese Journal of Birth Health & Heredity
参考文献2
-
1Matthew J Hilton, Laura Gutierrez, Daniel A Martinez,et al. EXTI regulates chondroeyte proliferation and differentiation during endochondral bone development [J]. Bone, 2005, 36 : 379 -386.
-
2Catherine R Hall, William G Cole, Richard Haynes, et al. Reevaluation of a Genetic Model for the Development of Exostosis in Hereditary Multiple Exostosis [ J ]. American Journal of Medical Genetics, 2002, 11.2:1 -5.
同被引文献7
-
1胡亚美,江载芳.实用儿科学(下册)[M].第5版.北京:人民卫生出版社,2002,2347.
-
2Schmame GA,Conarad EU 3rd,Raskind WH,The natural history of hereditary multiple exostoses [J].J Bone Joint Surg Am,1994,76(7):986-992.
-
3Solomn L.Hereditary multiple exostoses [J].Am J Hum Gent,1964,16(3):351-363.
-
4Hennekam RC.Hereditary. mnulitiple exostoses [J].J Med Genet,1991,28(4):262-266.
-
5Hilton MJ,Gutierrez L,Martinez DA,Wells DE.EXTI regulates chondrocyte proliferation and differentiation during endochondral bone development[J].Bone,2005,36(3):379-386.
-
6Hall CR,Clle WC,Haynes R,Hetcht JT.Reevaluation of a gentic model for the development of exostosis in hereditary multiple exostosis [J].Am J Med Genet,2002,1l2(1):1-5.
-
7Peterson HA.Multiple hereditary osteochondromata[J].Clin Orthop Relat Res,1989,(239):222-230.
二级引证文献2
-
1周永安,马云霞,郝子琪,张永红,李雪静,石懿玉,张全斌,李鹏丽.遗传性多发性骨软骨瘤一家系10例[J].中华医学遗传学杂志,2012,29(5):613-614. 被引量:2
-
2王薇,邱正庆,宋红梅.1例遗传性多发性骨软骨瘤家系EXT1基因分析[J].中国当代儿科杂志,2014,16(2):174-180. 被引量:4
-
1许桂凤,任绪功.ALPORT综合征[J].耳鼻喉学报,1996,10(3):161-162.
-
2高华.遗传性肾炎5个家系报告[J].九江医学,2000,15(4).
-
3顾桂兰,朱日晖,祁高堂.遗传性肾炎(附两个家系报告)[J].陕西医学杂志,1990,19(3):13-14.
-
4黄敏,吴楚琼.1例先天性成骨不全患者分娩两胎报道[J].中国优生与遗传杂志,1997,5(2):80-80. 被引量:1
-
5刘霁东,李军城,陈纪海,潘小兵.两个家族性斜疝家系报告[J].外科理论与实践,2002,7(6):475-475.
-
6彭淡君.成人型多囊肾二家系9例报告[J].中国优生与遗传杂志,1996,4(3):92-93.
-
7顾章平,赫荣国,马承宣.先天性髌骨脱位四代14例家系报告[J].中华骨科杂志,1997,17(3):193-193. 被引量:8
-
8Hennekam RCM,白希江.遗传性多发性外生骨疣[J].国外医学(遗传学分册),1992,15(4):196-198.
-
9许龙水,陈维思.遗传性多发性外生骨疣的X线诊断(附一家族5例报道)[J].中国临床医学影像杂志,1999,10(6):458-459.
-
10董海波,韩漫夫,布茂利.遗传性痉挛性截瘫1个家系报告[J].中风与神经疾病杂志,1997,14(5):313-313.