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Cornelia de Lange Syndrome
Cornelia de Lange Syndrome
Bernadette L. Koch, MD; Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Cornelia de Lange syndrome (CDLS)

            • Synonyms

              • Brachmann-de Lange syndrome
              • de Lange syndrome

            IMAGING

            • General Features

              • CT Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              Selected References

                              1. Selicorni A et al: Cornelia de Lange syndrome: from a disease to a broader spectrum. Genes (Basel). 12(7), 2021
                              2. Kim J et al: Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol. 29(3):569-73, 2008
                              3. Kline AD et al: Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007 Jun 15;143A(12):1287-96. Review. Erratum in: Am J Med Genet A. 146A(20):2713, 2008
                              4. Yamanobe S et al: Temporal bone pathology in Cornelia de Lange syndrome. Otol Neurotol. 22(1):57-60, 2001
                              5. Sasaki T et al: Temporal bone and brain stem histopathological findings in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol. 36(3):195-204, 1996
                              6. Van Allen MI et al: Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet. 47(7):947-58, 1993
                              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

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Cornelia de Lange syndrome (CDLS)

                                        • Synonyms

                                          • Brachmann-de Lange syndrome
                                          • de Lange syndrome

                                        IMAGING

                                        • General Features

                                          • CT Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  • Staging, Grading, & Classification

                                                    • Gross Pathologic & Surgical Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          Selected References

                                                          1. Selicorni A et al: Cornelia de Lange syndrome: from a disease to a broader spectrum. Genes (Basel). 12(7), 2021
                                                          2. Kim J et al: Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol. 29(3):569-73, 2008
                                                          3. Kline AD et al: Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007 Jun 15;143A(12):1287-96. Review. Erratum in: Am J Med Genet A. 146A(20):2713, 2008
                                                          4. Yamanobe S et al: Temporal bone pathology in Cornelia de Lange syndrome. Otol Neurotol. 22(1):57-60, 2001
                                                          5. Sasaki T et al: Temporal bone and brain stem histopathological findings in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol. 36(3):195-204, 1996
                                                          6. Van Allen MI et al: Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet. 47(7):947-58, 1993