Noonan's syndrome

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Introduction

Male phenotype of Turner's syndrome.

Etiology

may occur in association with neurofibromatosis

Epidemiology

  • male:female ratio 1:1
  • common, 1 in 1000-2500 live births

Pathology

Genetics

Clinical manifestations

Laboratory

Diagnostic procedures

Differential diagnosis

Management

More general terms

Additional terms

References

  1. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 47
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  4. Jump up to: 4.0 4.1 4.2 4.3 Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018
  5. Jump up to: 5.0 5.1 Burch M, Sharland M, Shinebourne E et al Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993 Oct;22(4):1189-92 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8409059
  6. Jump up to: 6.0 6.1 6.2 Bhambhani V, Muenke M. Noonan syndrome. Am Fam Physician. 2014 Jan 1;89(1):37-43. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24444506 Free PMC Article
  7. Jump up to: 7.0 7.1 ARUP Consult: Noonan Spectrum Disorders Panel https://arupconsult.com/ati/noonan-spectrum-disorders-panel

Database