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Silver-Russell综合征1例并文献复习

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摘要 Silver-Russell综合征（silver russell syndrome,SRS）是一组临床和遗传异质性疾病,以小于胎龄儿和（或）生后持续矮小、颅面畸形、肢体不对称伴四肢细为主要临床表现,先天性小指侧弯为特征.该病主要由7号染色体及染色体11p15区域母源或父源性印迹基因表达缺陷所致.国内仅见几例临床报道,本文总结分析1例SRS患儿的临床特点并结合文献复习,旨在提高对SRS的临床及基因的认识.
作者 宇亚芬 麻宏伟 黎芳 宋莹 胡曼 任爽
机构地区 中国医科大学附属盛京医院发育儿科
出处 《中国中西医结合儿科学》 2014年第1期20-21,共2页 Chinese Pediatrics of Integrated Traditional and Western Medicine
关键词 Silver-Russell综合征 染色体缺失 生长迟缓 儿童 学龄前
分类号 R596.1 [医药卫生—内科学]
  • 相关文献

参考文献10

  • 1Ferry RJ Jr. Silver russell syndrome[DB/OL]. New York: Medscape,2011[-2012-06-03]. http://emedicine, medscape. com/article/948786-overview ~ showall.
  • 2Noeker M, Wollmann HA. Cognitive development in Silver- Russell syndrome: a sibling-controlled study[J]. Dev Med Child Neurol, 2004,46 (5) : 340-346.
  • 3Eggermann T,Spengler S,Gogiel M, et at. Epigenetic and ge- netic diagnosis of Silver-Russell syndrome[J]. Expert Rev Mol Diagn,2012,12(5) :459-471.
  • 4朱铭强,巩纯秀,吴迪,黄书越,曹冰燕.Silver Russell综合征20例临床及遗传学分析[J].中华儿科杂志,2013,51(3):216-220. 被引量：6
  • 5Wakeling EL, Amero SA, Alders M, et al. Epigenotype-phe- notype correlations in Silver-Russell syndrome f-J3. J Med Genet,2010,47(11) :760-768.
  • 6Netchine I, Rossignol S, Dufourg MN, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring sys- tem and epigenetic-phenotypic['J~. J Clin Endocrinol Metab, 2007,92(8) :3148-3154.
  • 7Fuke T, Mizuno S, Nagai T, et al. Molecular and clinical stud- ies in 138 Japanese patients with Silver-Russell syndromeEJ/ OLd. PLoS One, 2013,8(3) : e60105.
  • 8Saal HM. Russell-Silver Syndrome. Gene ReviewsEM']. Seat- tle WA : University of Washington, 1993.
  • 9Binder G,Seidel AK, Martin DD, et al. The endocrine pheno- type in silver-russell syndrome is defined by the underlying epigenetic alterationEJ3. J Clin Endocrinol Metab, 2008, 93 (4) : 1402-1407.
  • 10Toumba M, Albanese A, Azcona C, et al. Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome[-J~. Horm Res Paediatr, 2010, 74 (3) :212-217.

二级参考文献20

  • 1邱丙平,黄士坤,陈春云.Russell-Silver综合征一例[J].中华儿科杂志,2006,44(2):147-147. 被引量：4
  • 2Wong KF, Wong WW, Li BX, et al. The first case of Silver- Russell syndrome accompanied by linea alba hernia in China. Singapore Med J,2010,51 : e9-e11.
  • 3邓海莉.Silver-Russell综合征伴先天性髋脱位1例报告.临床儿科杂志,1987,5:230.
  • 4Price SM, Stanhope R, Garrett C, et al. The spectrum of Silver- Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet, 1999,36:837-842.
  • 5Silver HK, Kiyasu W, George J, et al. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics, 1953,12:368-376.
  • 6Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms and other anomalies. Proc R Soc Med,1954,47:1040-1044.
  • 7Ferry RJ Jr. Silver russell syndrome [ DB/OL]. New York : Medscape,2011 [ 2012-5-3 ]. http://emedicine, medscape, corn/ article/948786 -overview#showall.
  • 8Wakeling EL, Amero SA, Alders M, et al. Epigenotype-- phenotype correlations in Silver-Russell syndrome. J Med Genet, 2010,47 : 760-768.
  • 9Weng H J, Niu DM, Turale S, et al. Family caregiver distress with children having rare genetic disorders : a qualitative study involving Russell-Silver syndrome in Taiwan. J Clin Nurs, 2012, 21:160- 169.
  • 10Wollmann HA, Kirehner T, Enders H, et al. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr, 1995,154:958-968.

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中国中西医结合儿科学
2014年 第1期

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