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遗传性多发性外生骨疣一例及家系报告 被引量:1

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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
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  • 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.
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  • 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.

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