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软骨发育不全的产前诊断及出生后治疗进展 被引量:3

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摘要 软骨发育不全(achondroplasia,ACH)在成人遗传性身材矮小中较为常见,同时也是胎儿非致死性骨骼畸形中的常见类型之一,发病率为(1.3~6.0)/100000。
出处 《中华妇产科杂志》 CAS CSCD 北大核心 2016年第10期785-787,共3页 Chinese Journal of Obstetrics and Gynecology
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参考文献28

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二级参考文献58

  • 1殷春霞,张伯锋,郭瑞军.胎儿骨骼发育异常的超声检查[J].中华超声影像学杂志,2004,13(9):710-712. 被引量:5
  • 2杨太珠.胎儿骨骼系统畸形的超声诊断[J].中国实用妇科与产科杂志,2005,21(9):528-530. 被引量:10
  • 3殷素婷.超声诊断胎儿软骨发育不全的临床价值[J].临床超声医学杂志,2005,7(6):417-417. 被引量:3
  • 4黄林环,方群.常见胎儿骨骼发育异常的产前诊断[J].中华妇产科杂志,2006,41(11):779-782. 被引量:14
  • 5李胜利.胎儿畸形产前超声诊断学.北京:人民军医出版社,2007:664.
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  • 7Matsushita T,Wilcox WR,Chan YY,et al.FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.Hum Mol Genet,2009,18:227-240.
  • 8Vajo Z,Francomano CA,Wilkin DJ.The molecular and geneticbasis of fibroblast growth factor receptor 3 disorders:the achondroplasia family of skeletal dysplasias,Muenke craniosynostosis,and Crouzon syndrome with acanthosis nigricans.Endocr Rev,2000,21:23-39.
  • 9Schweitzer DN,Graham JM,Lachman RS,et al Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.Am J Med Genet,2001,98:75-91.
  • 10Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med, 2009, 11:127-133.

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