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Noonan Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • NS
              • Male Turner syndrome
              • Turner phenotype with normal karyotype
              • Pterygium colli syndrome
            • Definitions

              • Genetically heterogeneous syndrome characterized by congenital heart defects, webbed neck, pectus deformity of chest, short stature, characteristic facial appearance, and in males, cryptorchidism
              • 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. Aoki Y et al: Recent advances in RASopathies. J Hum Genet. 61(1)33-9, 2015
                                2. 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
                                3. Gelb BD et al: Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 39(1):13-19, 2015
                                4. 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
                                5. 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
                                6. 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
                                7. 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
                                8. 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. ePub, 2015
                                9. 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
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Clinical Issues

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Synonyms

                                            • NS
                                            • Male Turner syndrome
                                            • Turner phenotype with normal karyotype
                                            • Pterygium colli syndrome
                                          • Definitions

                                            • Genetically heterogeneous syndrome characterized by congenital heart defects, webbed neck, pectus deformity of chest, short stature, characteristic facial appearance, and in males, cryptorchidism
                                            • 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. Aoki Y et al: Recent advances in RASopathies. J Hum Genet. 61(1)33-9, 2015
                                                              2. 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
                                                              3. Gelb BD et al: Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 39(1):13-19, 2015
                                                              4. 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
                                                              5. 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
                                                              6. 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
                                                              7. 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
                                                              8. 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. ePub, 2015
                                                              9. 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