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Noonan syndrome – then and now

Published online by Cambridge University Press:  19 August 2008

Jacqueline Noonan
Jacqueline Noonan*
Affiliation:
Department of Pediatrics, University of Kentucky, Lexington, USA
*
Jacqueline Noonan, M.D., Department of Pediatrics, University of Kentucky, College of Medicine, Lexington, KY 40536–00298, USA. Tel: 606 323 5494; Fax: 606 323 3499; E-mail: [email protected]
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The report by Danetz, Donofrio and Embrey1 provides an interesting long term follow-up on the first patient diagnosed by me with what is now known as Noonan syndrome. In 1960, when this patient was seen, cardiac ultrasound was unavailable and left-sided cardiac catheterization uncommon. He had severe pulmonary stenosis, and did well following surgery. Unfortunately, his follow-up was not adequate and left-sided obstruction was not recognized until he became symptomatic some thirty years later. Early reports stressed the dysplastic pulmonary valve, with pulmonary stenosis as a common finding.2 By 1972, the report of Ehlers et al.3 brought attention to the left-sided involvement in the Turner phenotype.

Type
Editorial Comments
Information
Cardiology in the Young , Volume 9 , Issue 6 , November 1999 , pp. 545 - 546
Copyright
Copyright © Cambridge University Press 1999

References

1.Danetz, JS, Donofrio, MT, Embrey, RP. Multiple left sided cardiac lesion in one of Noonan's original patient. Cardiology in the Young 1999; 6: 610–612.CrossRefGoogle Scholar
2.Noonan, JA. Hypertelorism with Turner phenotype. Am J Dis of Child 1968; 16:373–380.CrossRefGoogle Scholar
3.Ehlers, KH, Engle, MA, Levin, AR, Delly, WJ. Eccentric ventricular hypertrophy in familial and sporadic instances of 46XX, XY Turner phenotype. Circulation 1972; 45:639–652.CrossRefGoogle Scholar
4.Noonan, JA, O'Connor, W. Noonan syndrome, a clinical description emphasizing the cardiac findings. Acta Paed Jap 1996; 38:76–83.Google ScholarPubMed
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6.Jamieson, CR, van der Bugt, I, Brady, AF. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nature Genetics 1994;8:357–360.CrossRefGoogle Scholar