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Noonan综合征1例 被引量：4

Case Report of Noonan Syndrome
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摘要 Noonan综合征于1968年由Noonan正式提出，是一种以特殊面容、身材矮小、智力发育障碍并伴先天性心脏病、骨骼发育异常、出血倾向、淋巴管发育不良为特征的多发性先天畸形，2010年5月本科收治Noonan综合征男性患儿1例，现将患儿的临床特点及诊断经过报告如下。
作者 徐璇 贺湘玲
机构地区 湖南省人民医院儿科
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2012年第14期1074-1074,1104,共2页 Journal of Applied Clinical Pediatrics
关键词 NOONAN综合征 先天性心脏病 身材矮小 PTPN11 基因突变
分类号 R725.8 [医药卫生—儿科]
  • 相关文献

参考文献8

  • 1Lloyd S. Supporting children with Noonan syndrome[ J 1. Paediatr Nurs, 2007,19(9) :41.
  • 2Miyoshi Y, Yasuhara T, Date 1. Noonan syndrome wilh occipito- allantal dislocation and upper cervical cord compression clue to CI dysplasia and basilar invagination[ J ]. Neurol Med Chir (Tokyo) 2011,51 ( 6 ) :463 - 466.
  • 3Tartaglia M, Mehler EL, Goldberg R, e! al. Mutations in PTPN1 I, en('o- ding the protein tyrosine phosphatasc SlIP -2, cause N(man syndrome [ J ]. Nat Genet, 2001,29 ( 4 ) :465 - 468.
  • 4Nystrim AM, Ekvall S, Thuresson AC, et al. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation - dependent probe amplification analysis L J ]. Eur J Med Genet, 2(110,53 (3):117-121.
  • 5Pagon RA, Bird TD, Dolan CR,et al. Gene reviews [ M ]. Seattle : Univer- sity tf Washington, 1993.
  • 6Romano A A, Allanson JE, l)ahlgren J, e/ al. Noonan syndrome : ('linical features, diagnosis, and managemcnl guidelines [ J ]. Pediatrics, 2010, 126(4) :746 -759.
  • 7Van tier Burgt I. Noonan syndrome[ J ]. Orphanet J Rare Dis ,2007,2:4.
  • 8Noonan Syndrome Guideline Development Group. Managcrmmt of Noo- nan syndrome : A clinical guideline [ Z 1- 2010.

同被引文献39

  • 1石峰,李兰英.Noonan综合征/大动脉易位与PROSIT240相关关系的研究进展[J].国际儿科学杂志,2006,33(6):383-385. 被引量：2
  • 2Tetsuya Niihori,Yoko Aoki,Hirofumi Ohashi,Kenji Kurosawa,Tatsuro Kondoh,Satoshi Ishikiriyama,Hiroshi Kawame,Hotaka Kamasaki,Tsutomu Yamanaka,Fumio Takada,Kimio Nishio,Masahiro Sakurai,Hiroshi Tamai,Tatsuro Nagashima,Yoichi Suzuki,Shigeo Kure,Kunihiro Fujii,Masue Imaizumi,Yoichi Matsubara.Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia[J].Journal of Human Genetics.2005(4)
  • 3Tartaglia M,Mehler EL,Goldberg R,et al.Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome[].Nature Genetics.2001
  • 4S Schubbert,M Zenker,SL Rowe,S B?ll,C Klein,G Bollag,I Burgt,L Musante,V Kalscheuer,LE Wehner,H Nguyen,B West,KY Zhang,E Sistermans,A Rauch,CM Niemeyer,K Shannon,CP Kratz.Germline KRAS mutations cause Noonan syndrome[].Nature Genetics.2006
  • 5Roberts AE,Araki T,Swanson KD,et al.Germline gain-of-function mutations in SOS1 cause Noonan syndrome[].Nature Genetics.2007
  • 6Razzaque MA,Nishizawa T,Komoike Y et al.Germline gain-of-function mutations in RAF1 cause Noonan syndrome[].Nature Genetics.2007
  • 7Fragale,A,Tartaglia,M,Wu,J,Gelb,BD.Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation[].Human Mutation.2004
  • 8Zenker,M,Buheitel,G,Rauch,R.Genotype–phenotype correlations in Noonan syndrome[].The Journal of Pediatrics.2004
  • 9Musante L,Kehl HG,Majewski F et al.Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome[].European Journal.2003
  • 10Limal,JM,Parfait,B,Cabrol,S,Bonnet,D,Leheup,B,Lyonnet,S.Noonan syndrome: relationships between genotype, growth and growth factors[].The Journal of Clinical Endocrinology.2006

引证文献4

二级引证文献15

实用儿科临床杂志
2012年 第14期

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