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CLOVES综合征一例 被引量：4

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摘要 CLOVES综合征是一种以先天性脂肪瘤过度生长、血管畸形、表皮痣和骨骼异常、脊柱侧弯或脊髓异常为主要表现的临床综合征。，现国内尚未见报道。
作者 仇雅璟 林晓曦 杨希 马刚 陈辉 胡晓洁 金云波
机构地区 上海交通大学医学院附属第九人民医院整复外科
出处 《中华整形外科杂志》 CAS CSCD 北大核心 2014年第1期64-66,共3页 Chinese Journal of Plastic Surgery
关键词 临床综合征 过度生长 血管畸形 骨骼异常 主要表现 脊髓异常 脊柱侧弯 脂肪瘤
分类号 R596 [医药卫生—内科学]
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参考文献4

  • 1Sapp JC,Turner JT,van de Kamp JM. Newly delineated syndrome of congenital lipomatous overgrowth,vascular malformations,and epidermal nevi (CLOVE syndrome) in seven patients[J].{H}American Journal of Medicdl Genetics,2007.2944-2958.
  • 2Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth,vascular,and acral anomalies:a descriptive study of 18 cases of CLOVES syndrome[J].{H}CLINICAL DYSMORPHOLOGY,2009.1-7.
  • 3Kurek KC,Luks VL,Ayturk UM. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome[J].{H}American Journal of Hunan Genetics,2012.1108-1115.
  • 4Fernandez-Pineda I,Fajardo M,Chaudry G. Perinatal clinical and imaging features of CLOVES syndrome[J].{H}Pediatric Radiology,2010.1436-1439.

同被引文献27

  • 1Sapp JC, Turner JT, van de Kamp JM, et al. Newly delineated syndrome of congenital lipomatous overgrowth,vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients [J]. Am J Med Genet A, 2007, 143A(24):2944-2958.
  • 2Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth,vascular, and acral anomalies: A descriptive study of 18 cases of CLOVES syndrome [J]. Clin Dysmorphol, 2009, 18( 1 ): 1-7.
  • 3Knrek KC, Luks VL, Arturk UM, et al. Somatic mosaic activating mutations in P1K3CA cause CLOVES syndrome [J]. Am J Hum Genet, 2012, 90(6):1108-1115.
  • 4Emrick LT, Murphy L, Shamshirsaz AA, et al. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes [J]. Am J Med Genet A, 2014, 164A(10):2633-2637.
  • 5Loconte DC,Grossi V,Bozzao C,et al.Molecular and functional characterization of three different postzygotic mutations in PIK3CA- related overgrowth spectnnn (PROS) patients: effects on PI3K/AKT/ mTOR signaling and sensitivity to PIK3 inhibitors [J]. PloS One, 2015, 10(4):e0123092.
  • 6Keppler-Noreuil KM, Rios JJ, Parker Ve, et al. PIK3CA-related overgrowth spectrum (PROS):diagnostic and testing eligibility criteria,differential diagnosis,and evaluation [J]. Am J Med Genet A, 2015, 167A(2):287-295.
  • 7Harit D,Aggarwal A.CLOVE syndrome with nevus unis lateris:report of a case [J]. Pediatr Dermatol, 2010, 27(3):311-312.
  • 8Sariei D, Akin MA, Kurtoglu S, et al. A Neonate with CLOVES Syndrome [J]. Case Rep Pediatr, 2014, 845074.
  • 9Alomari AI, Burrows PE, Lee EY, et al. CLOVES syndrome with thoracic and central phlebectasia:increased risk of pulmonary embolism [J]. J Thorac Cardiovasc Surg, 2010, 140(2):459-463.
  • 10Alomari AI, Chaudry G, Rodesch G, et al. Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome:Analysis of clinical and imaging findings in 6 patients [J]. AJNR Am J Neuroradiol, 201 I, 32(10):1812-1817.

引证文献4

二级引证文献7

中华整形外科杂志
2014年 第1期

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