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CHARGE Syndrome
Anne M. 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, heart malformation, choanal atresia, retardation of growth &/or development, genital anomalies &/or hypogonadism, ear anomalies &/or deafness
              • Exact diagnostic criteria are subject of debate in literature; continue to evolve as additional features become apparent, particularly with high-resolution imaging
                • All features have variable expression
                • All inconstant, nonspecific

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          DIAGNOSTIC CHECKLIST

                          • Reporting Tips

                            Selected References

                            1. 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
                            2. 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
                            3. Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
                            4. Kosaki K: Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom (Kyoto). 51(1):12-5, 2011
                            5. Pampal A: CHARGE: an association or a syndrome? Int J Pediatr Otorhinolaryngol. 74(7):719-22, 2010
                            6. Fujita K et al: Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol. 30(3):629-34, 2009
                            7. Asakura Y et al: Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. J Clin Endocrinol Metab. 93(3):920-4, 2008
                            8. Blustajn J et al: Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. AJNR Am J Neuroradiol. 29(7):1266-9, 2008
                            9. Lee KD et al: Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 24(10):1153-6, 2008
                            10. Monfort S et al: Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. J Med Genet. 45(7):432-7, 2008
                            11. Song JJ et al: Skull base vascular anomaly in CHARGE syndrome: a case report and review. Int J Pediatr Otorhinolaryngol. 72(4):535-9, 2008
                            12. Sanlaville D et al: CHARGE syndrome: an update. Eur J Hum Genet. 15(4):389-99, 2007
                            13. Writzl K et al: Immunological abnormalities in CHARGE syndrome. Eur J Med Genet. 50(5):338-45, 2007
                            14. Azoulay R et al: MRI of the olfactory bulbs and sulci in human fetuses. Pediatr Radiol. 36(2):97-107, 2006
                            15. Morimoto AK et al: Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 27(8):1663-71, 2006
                            16. 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
                            17. Pinto G et al: CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab. 90(10):5621-6, 2005
                            18. Raqbi F et al: Early prognostic factors for intellectual outcome in CHARGE syndrome. Dev Med Child Neurol. 45(7):483-8, 2003
                            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, heart malformation, choanal atresia, retardation of growth &/or development, genital anomalies &/or hypogonadism, ear anomalies &/or deafness
                                        • Exact diagnostic criteria are subject of debate in literature; continue to evolve as additional features become apparent, particularly with high-resolution imaging
                                          • All features have variable expression
                                          • All inconstant, nonspecific

                                      IMAGING

                                      • Ultrasonographic Findings

                                        • MR Findings

                                          DIFFERENTIAL DIAGNOSIS

                                            PATHOLOGY

                                            • General Features

                                              CLINICAL ISSUES

                                              • Presentation

                                                • Demographics

                                                  • Natural History & Prognosis

                                                    DIAGNOSTIC CHECKLIST

                                                    • Reporting Tips

                                                      Selected References

                                                      1. 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
                                                      2. 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
                                                      3. Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
                                                      4. Kosaki K: Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom (Kyoto). 51(1):12-5, 2011
                                                      5. Pampal A: CHARGE: an association or a syndrome? Int J Pediatr Otorhinolaryngol. 74(7):719-22, 2010
                                                      6. Fujita K et al: Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol. 30(3):629-34, 2009
                                                      7. Asakura Y et al: Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. J Clin Endocrinol Metab. 93(3):920-4, 2008
                                                      8. Blustajn J et al: Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. AJNR Am J Neuroradiol. 29(7):1266-9, 2008
                                                      9. Lee KD et al: Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 24(10):1153-6, 2008
                                                      10. Monfort S et al: Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. J Med Genet. 45(7):432-7, 2008
                                                      11. Song JJ et al: Skull base vascular anomaly in CHARGE syndrome: a case report and review. Int J Pediatr Otorhinolaryngol. 72(4):535-9, 2008
                                                      12. Sanlaville D et al: CHARGE syndrome: an update. Eur J Hum Genet. 15(4):389-99, 2007
                                                      13. Writzl K et al: Immunological abnormalities in CHARGE syndrome. Eur J Med Genet. 50(5):338-45, 2007
                                                      14. Azoulay R et al: MRI of the olfactory bulbs and sulci in human fetuses. Pediatr Radiol. 36(2):97-107, 2006
                                                      15. Morimoto AK et al: Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 27(8):1663-71, 2006
                                                      16. 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
                                                      17. Pinto G et al: CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab. 90(10):5621-6, 2005
                                                      18. Raqbi F et al: Early prognostic factors for intellectual outcome in CHARGE syndrome. Dev Med Child Neurol. 45(7):483-8, 2003