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CHARGE Syndrome
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • CHARGE refers to nonrandom cluster of malformations seen in children, including
                • Coloboma and cranial nerve defects, heart malformation, choanal atresia, retardation of growth &/or development, genital anomalies &/or hypogonadism, ear anomalies &/or deafness

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          DIAGNOSTIC CHECKLIST

                          • Image Interpretation Pearls

                            Selected References

                            1. Meisner JK et al: Congenital heart defects in CHARGE: the molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet C Semin Med Genet. 184(1):81-9, 2020
                            2. Beger O et al: Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. Surg Radiol Anat. 41(5):601-5, 2019
                            3. Millischer AE et al: Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. Prenat Diagn. 39(9):781-91, 2019
                            4. Acanfora MM et al: Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome. Ultrasound Obstet Gynecol. 48(2):181-4, 2016
                            5. Busa T et al: Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenat Diagn. 36(6):561-7, 2016
                            6. Tempfer-Bentz E et al: CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia. Ultrasound Obstet Gynecol. 43(6):713-4, 2014
                            7. Colin E et al: Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. Prenat Diagn. 32(7):692-4, 2012
                            8. Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
                            9. Kosaki K: Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom (Kyoto). 51(1):12-5, 2011
                            10. Tilea B et al: Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases. Pediatr Radiol. 36(2):149-54, 2006
                            Related Anatomy
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                            Related Differential Diagnoses
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                            References
                            Tables

                            Tables

                            KEY FACTS

                            • Terminology

                              • Imaging

                                • Pathology

                                  • Clinical Issues

                                    • Diagnostic Checklist

                                      TERMINOLOGY

                                      • Definitions

                                        • CHARGE refers to nonrandom cluster of malformations seen in children, including
                                          • Coloboma and cranial nerve defects, heart malformation, choanal atresia, retardation of growth &/or development, genital anomalies &/or hypogonadism, ear anomalies &/or deafness

                                      IMAGING

                                      • Ultrasonographic Findings

                                        • MR Findings

                                          DIFFERENTIAL DIAGNOSIS

                                            PATHOLOGY

                                            • General Features

                                              CLINICAL ISSUES

                                              • Presentation

                                                • Demographics

                                                  • Natural History & Prognosis

                                                    DIAGNOSTIC CHECKLIST

                                                    • Image Interpretation Pearls

                                                      Selected References

                                                      1. Meisner JK et al: Congenital heart defects in CHARGE: the molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet C Semin Med Genet. 184(1):81-9, 2020
                                                      2. Beger O et al: Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. Surg Radiol Anat. 41(5):601-5, 2019
                                                      3. Millischer AE et al: Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. Prenat Diagn. 39(9):781-91, 2019
                                                      4. Acanfora MM et al: Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome. Ultrasound Obstet Gynecol. 48(2):181-4, 2016
                                                      5. Busa T et al: Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. Prenat Diagn. 36(6):561-7, 2016
                                                      6. Tempfer-Bentz E et al: CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia. Ultrasound Obstet Gynecol. 43(6):713-4, 2014
                                                      7. Colin E et al: Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. Prenat Diagn. 32(7):692-4, 2012
                                                      8. Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
                                                      9. Kosaki K: Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom (Kyoto). 51(1):12-5, 2011
                                                      10. Tilea B et al: Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases. Pediatr Radiol. 36(2):149-54, 2006