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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. Boyle MI et al: Cornelia de Lange syndrome. Clin Genet. 88(1):1-12, 2015
                                2. 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
                                3. Pereza N et al: Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]. Am J Med Genet A. 167(6):1426-7, 2015
                                4. Yuan B et al: Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 125(2):636-51, 2015
                                5. 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
                                6. Muto A et al: Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet. 10(9):e1004671, 2014
                                7. Carretero M et al: Cohesin ties up the genome. Curr Opin Cell Biol. Epub ahead of print, 2010
                                8. Castronovo P et al: Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet. 78(6):560-4, 2010
                                9. Liu J et al: Cornelia de Lange syndrome. Adv Exp Med Biol. 685:111-23, 2010
                                10. Mannini L et al: Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 31(1):5-10, 2010
                                11. Mannini L et al: The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer. Hum Mutat. 31(6):623-30, 2010
                                12. Oliver C et al: Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A. 152A(5):1127-35, 2010
                                13. 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
                                14. Pié J et al: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A. 152A(4):924-9, 2010
                                15. 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
                                16. Chong K et al: Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn. 29(5):489-94, 2009
                                17. Dorsett D et al: On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 1151:22-37, 2009
                                18. 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
                                19. Liu J et al: Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 76(4):303-14, 2009
                                20. Liu J et al: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 7(5):e1000119, 2009
                                21. Selicorni A et al: Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A. 149A(6):1268-72, 2009
                                22. Sepulveda W et al: Brachmann-de Lange Syndrome: prenatal diagnosis with 2- and 3-dimensional sonography. J Ultrasound Med. 28(3):401-4, 2009
                                23. Wilmink FA et al: Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther. 26(1):50-3, 2009
                                24. Wulffaert J et al: Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. J Intellect Disabil Res. 53(7):604-19, 2009
                                25. Deardorff MA et al: Cornelia de Lange syndrome. 1993-, 2005
                                26. 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
                                27. 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. Boyle MI et al: Cornelia de Lange syndrome. Clin Genet. 88(1):1-12, 2015
                                                              2. 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
                                                              3. Pereza N et al: Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]. Am J Med Genet A. 167(6):1426-7, 2015
                                                              4. Yuan B et al: Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 125(2):636-51, 2015
                                                              5. 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
                                                              6. Muto A et al: Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet. 10(9):e1004671, 2014
                                                              7. Carretero M et al: Cohesin ties up the genome. Curr Opin Cell Biol. Epub ahead of print, 2010
                                                              8. Castronovo P et al: Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet. 78(6):560-4, 2010
                                                              9. Liu J et al: Cornelia de Lange syndrome. Adv Exp Med Biol. 685:111-23, 2010
                                                              10. Mannini L et al: Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 31(1):5-10, 2010
                                                              11. Mannini L et al: The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer. Hum Mutat. 31(6):623-30, 2010
                                                              12. Oliver C et al: Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A. 152A(5):1127-35, 2010
                                                              13. 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
                                                              14. Pié J et al: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A. 152A(4):924-9, 2010
                                                              15. 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
                                                              16. Chong K et al: Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn. 29(5):489-94, 2009
                                                              17. Dorsett D et al: On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 1151:22-37, 2009
                                                              18. 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
                                                              19. Liu J et al: Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 76(4):303-14, 2009
                                                              20. Liu J et al: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 7(5):e1000119, 2009
                                                              21. Selicorni A et al: Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A. 149A(6):1268-72, 2009
                                                              22. Sepulveda W et al: Brachmann-de Lange Syndrome: prenatal diagnosis with 2- and 3-dimensional sonography. J Ultrasound Med. 28(3):401-4, 2009
                                                              23. Wilmink FA et al: Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther. 26(1):50-3, 2009
                                                              24. Wulffaert J et al: Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. J Intellect Disabil Res. 53(7):604-19, 2009
                                                              25. Deardorff MA et al: Cornelia de Lange syndrome. 1993-, 2005
                                                              26. 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
                                                              27. 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