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Cornelia de Lange Syndrome
Janice L. B. Byrne, MD
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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, de Lange
            • Definitions

              • Rare multisystem disorder with characteristic facial features, growth restriction, intellectual impairment, limb defects, gastrointestinal abnormalities, cardiac defects, and hypertrichosis

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Radiographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              DIAGNOSTIC CHECKLIST

                              • Image Interpretation Pearls

                                Selected References

                                1. Sarogni P et al: Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. J Med Genet. 57(5):289-95, 2020
                                2. Dowsett L et al: Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 179(2):150-8, 2019
                                3. Kline AD et al: Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 19(10):649-66, 2018
                                4. Avagliano L et al: Cornelia de Lange syndrome: to diagnose or not to diagnose in utero? Birth Defects Res. 109(10):771-7, 2017
                                5. Kline AD et al: Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 scientific and educational symposium. Am J Med Genet A. 167(6):1179-92, 2015
                                6. Kline AD et al: Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th biennial scientific and educational symposium abstracts. Am J Med Genet A. 164A(6):1384-93, 2014
                                7. Pajkrt E et al: Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis. Prenat Diagn. 30(9):865-72, 2010
                                8. Rohatgi S et al: Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A. 152A(7):1641-53, 2010
                                9. Kawauchi S et al: Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange syndrome. PLoS Genet. 5(9):e1000650, 2009
                                10. Gillis LA et al: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 75(4):610-23, 2004
                                11. Krantz ID et al: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 36(6):631-5, 2004
                                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, de Lange
                                          • Definitions

                                            • Rare multisystem disorder with characteristic facial features, growth restriction, intellectual impairment, limb defects, gastrointestinal abnormalities, cardiac defects, and hypertrichosis

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • Radiographic Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            DIAGNOSTIC CHECKLIST

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Sarogni P et al: Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. J Med Genet. 57(5):289-95, 2020
                                                              2. Dowsett L et al: Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 179(2):150-8, 2019
                                                              3. Kline AD et al: Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 19(10):649-66, 2018
                                                              4. Avagliano L et al: Cornelia de Lange syndrome: to diagnose or not to diagnose in utero? Birth Defects Res. 109(10):771-7, 2017
                                                              5. Kline AD et al: Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 scientific and educational symposium. Am J Med Genet A. 167(6):1179-92, 2015
                                                              6. Kline AD et al: Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th biennial scientific and educational symposium abstracts. Am J Med Genet A. 164A(6):1384-93, 2014
                                                              7. Pajkrt E et al: Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis. Prenat Diagn. 30(9):865-72, 2010
                                                              8. Rohatgi S et al: Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A. 152A(7):1641-53, 2010
                                                              9. Kawauchi S et al: Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange syndrome. PLoS Genet. 5(9):e1000650, 2009
                                                              10. Gillis LA et al: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 75(4):610-23, 2004
                                                              11. Krantz ID et al: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 36(6):631-5, 2004