最近审阅: 24 十月 2020
最近更新: 29 五月 2018

小结

定义

病史和体格检查

关键诊断因素

  • 阳性家族史
  • 身材矮小
  • 异常面容特征
  • 隐睾症
  • 心脏畸形
  • 青春发育延迟
  • 容易出血或出现淤伤
  • 淋巴水肿
  • 色素异常
  • 眉毛和睫毛稀疏或缺如
  • 脾肿大

其他诊断因素

  • 产前发现异常
  • 胸部畸形
  • 发育迟缓/学习困难
  • 骨骼异常
  • 肌无力
  • 肾脏畸形史

危险因素

  • Noonan 综合征家族史
  • 高父龄

诊断性检查

首要检查

  • 心电图 (ECG)
  • 超声心动图
更多 首要检查

需考虑的检查

  • 全血细胞计数 (FBC)
  • 凝血指标
  • 分子遗传学检测
  • 腹部超声
  • 肾脏超声
更多 需考虑的检查

治疗流程

急性处理

撰稿人

Associate Professor

Department of Pediatrics

Division of Medical Genetics

Stanford University

Stanford

CA

利益声明

DAS has acted as a consultant for Lineagen, GLG, and Alexion, and has given expert testimony. He is on the medical advisory board for parents' support groups for Costello syndrome and CFC syndrome. DAS is an author of a reference cited in this monograph.

Dr David A. Stevenson would like to gratefully acknowledge Dr Judith E. Allanson, the previous contributor to this monograph. JEA is an author of a number of references cited in this monograph.

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Chief

Endocrine Research Department

Instituto de Investigaciones Médicas Alfredo Lanari

IDIM-CONICET

University of Buenos Aires

Argentina

利益声明

LNC declares that she has no competing interests.

Professor of Pediatrics

Mount Sinai School of Medicine

New York

NY

利益声明

BG received royalties from GeneDx, Correlegan, Preventative Genetics, Baylor College of Medicine, and Harvard Medical School/Partners for genetic testing of Noonan syndrome. BG is an author of a number of references cited in this monograph.

Professor Emeriti

Department of Pediatrics

College of Medicine

University of Kentucky

Lexington

KY

利益声明

JN is on the Noonan Syndrome Advisory Board for Novo Nordisk and has received payment for speaking at a symposium. JN is an author of a number of references cited in this monograph.

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