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Noonan Syndrome
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Male Turner syndrome
                • Female pseudo-Turner syndrome
                • Male Turner syndrome; female pseudo-Turner syndrome; Turner phenotype with normal karyotype
              • Definitions

                • Genetically and clinically heterogeneous syndrome with congenital heart defects, short stature, characteristic craniofacial appearance, and developmental delay
                • Caused by activating mutations in RAS-MAPK signaling pathway (RASopathy)

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  Selected References

                                  1. Leach NT et al: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. Genet Med. 21(2):417-25, 2019
                                  2. Stuurman KE et al: Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. J Med Genet. 56(10):654-61, 2019
                                  3. Hakami F et al: Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. Prenat Diagn. 36(5):418-23, 2016
                                  4. Aoki Y et al: Recent advances in RASopathies. J Hum Genet. 61(1)33-9, 2015
                                  5. Ekvall S et al: Mutation in NRAS in familial Noonan syndrome - case report and review of the literature. BMC Med Genet. 16(1):95, 2015
                                  6. Gelb BD et al: Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 39(1):13-19, 2015
                                  7. Hernández-Porras I et al: The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare Dis. 3(1):e1045169, 2015
                                  8. Kneitel AW et al: A Novel mutation on RAF1 in association with fetal findings suggestive of Noonan syndrome. Fetal Pediatr Pathol. 34(6):361-4, 2015
                                  9. Lee PA et al: Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program. Int J Pediatr Endocrinol. 2015(1):17, 2015
                                  10. McWilliams GD et al: Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. Am J Med Genet A. 170(1):195-201, 2015
                                  11. Nemcikova M et al: A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. Eur J Pediatr. 175(4):587-92, 2015
                                  12. Smpokou P et al: Malignancy in Noonan syndrome and related disorders. Clin Genet. 88(6):516-22, 2015
                                  13. Zavras N et al: Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Ital J Pediatr. 41:71, 2015
                                  14. Roberts AE et al: Noonan syndrome. Lancet. 381(9863):333-42, 2013
                                  15. Allanson JE et al: Noonan syndrome. In GeneReviews. University of Washington. Published November 15, 2001. Updated August 8, 2019. https://pubmed.ncbi.nlm.nih.gov/20301303/
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Synonyms

                                                • Male Turner syndrome
                                                • Female pseudo-Turner syndrome
                                                • Male Turner syndrome; female pseudo-Turner syndrome; Turner phenotype with normal karyotype
                                              • Definitions

                                                • Genetically and clinically heterogeneous syndrome with congenital heart defects, short stature, characteristic craniofacial appearance, and developmental delay
                                                • Caused by activating mutations in RAS-MAPK signaling pathway (RASopathy)

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Consider

                                                                  Selected References

                                                                  1. Leach NT et al: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. Genet Med. 21(2):417-25, 2019
                                                                  2. Stuurman KE et al: Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. J Med Genet. 56(10):654-61, 2019
                                                                  3. Hakami F et al: Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. Prenat Diagn. 36(5):418-23, 2016
                                                                  4. Aoki Y et al: Recent advances in RASopathies. J Hum Genet. 61(1)33-9, 2015
                                                                  5. Ekvall S et al: Mutation in NRAS in familial Noonan syndrome - case report and review of the literature. BMC Med Genet. 16(1):95, 2015
                                                                  6. Gelb BD et al: Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 39(1):13-19, 2015
                                                                  7. Hernández-Porras I et al: The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare Dis. 3(1):e1045169, 2015
                                                                  8. Kneitel AW et al: A Novel mutation on RAF1 in association with fetal findings suggestive of Noonan syndrome. Fetal Pediatr Pathol. 34(6):361-4, 2015
                                                                  9. Lee PA et al: Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program. Int J Pediatr Endocrinol. 2015(1):17, 2015
                                                                  10. McWilliams GD et al: Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. Am J Med Genet A. 170(1):195-201, 2015
                                                                  11. Nemcikova M et al: A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. Eur J Pediatr. 175(4):587-92, 2015
                                                                  12. Smpokou P et al: Malignancy in Noonan syndrome and related disorders. Clin Genet. 88(6):516-22, 2015
                                                                  13. Zavras N et al: Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Ital J Pediatr. 41:71, 2015
                                                                  14. Roberts AE et al: Noonan syndrome. Lancet. 381(9863):333-42, 2013
                                                                  15. Allanson JE et al: Noonan syndrome. In GeneReviews. University of Washington. Published November 15, 2001. Updated August 8, 2019. https://pubmed.ncbi.nlm.nih.gov/20301303/