Prenatal suspicion of Noonan syndrome on the basis of echocardiographic findings - a case report

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Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. It is mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. Its symptoms can be observed during fetal life, but most of them are not specific for Noonan syndrome. Cardiac symptoms such as pulmonary stenosis or hypertrophic cardiomyopathy seems to be the most specific. We present a case of Noonan syndrome monitored during fetal live using prenatal echocardiography with a brief review of the literature.

1. Sonesson SE, Fouron JC, Lessard M. Intrauterine diagnosis and evolution of a cardiomyopathy in a fetus with Noonan's syndrome. Acta Paediatr. 1992;81(4):368-70.

2. Johes KL. Smith's Recognizable Patterns of Human Malformations. Elsevier Saunders 2006

3. Baza danych GeneTests:

4. van Huizen ME, Pighetti M, Bijlsma EK, Knegt AC, Bilardo CM. Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents. Ultrasound Obstet Gynecol 2005, 26(7): 793-794

5. Nisbet DL, Griffin DR, Chitty LS. Prenatal features of Noonan syndrome. Prenat Diagn. 1999;19(7):642-7

6. Hiippala A, Eronen M, Taipale P, Salonen R, Hiilesmaa V. Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol. 2001;18(1):18-22

7. Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009;75(2):190-194

8. Bakker M, Pajkrt E, Mathijssen IB, Bilardo CM. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2011 Jun 27 (Epub ahead of print)

9. Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, Rossi C, Tartaglia M, Silengo M, Ferrero GB. Prenatal features of Noonan syndrome: prevalence and prognostic value. Prenat Diagn. 2011 Jul 11 (Epub ahead of print)

10. Houweling AC, de Mooij YM, van der Burgt I, Yntema HG, Lachmeijer AM, Go AT. Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. Prenat Diagn 2010, 30(3): 284-286

11. Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cavé H, Verloes A. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics. 2007;119:1325-1331.

12. Achiron R, Heggesh J, Grisaru D, et al. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet 2000, 92(3): 159-165

13. Menashe M, Arbel R, Raveh D, Achiron R, Yagel S. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome. Ultrasound Obstet Gynecol 2002, 19(1): 51-55

14. Sharland M, Morgan M, Smith G, Burch M, Patton MA. Genetic counselling in Noonan syndrome. Am J Med Genet 1993, 45: 437-440

15. Kiyota A, Tsukimori K, Yumoto Y, et al. Spontaneous resolution of cystic hygroma and hydrops in a fetus with Noonan's syndrome. Fetal Diagn Ther 2008, 24(4): 499-502

16. Suda K, Kohl T, Kovalchin JP, Silverman NH. Echocardiographic predictors of poor outcome in infants with hypertrophic cardiomyopathy. Am J Cardiol. 1997 Sep 1;80(5):595-600.

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