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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
Boyle MI et al: Cornelia de Lange syndrome. Clin Genet. 88(1):1-12, 2015
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
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
Yuan B et al: Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 125(2):636-51, 2015
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
Muto A et al: Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet. 10(9):e1004671, 2014
Carretero M et al: Cohesin ties up the genome. Curr Opin Cell Biol. Epub ahead of print, 2010
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
Liu J et al: Cornelia de Lange syndrome. Adv Exp Med Biol. 685:111-23, 2010
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
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
Oliver C et al: Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A. 152A(5):1127-35, 2010
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
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
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
Chong K et al: Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn. 29(5):489-94, 2009
Dorsett D et al: On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 1151:22-37, 2009
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
Liu J et al: Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 76(4):303-14, 2009
Liu J et al: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 7(5):e1000119, 2009
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
Sepulveda W et al: Brachmann-de Lange Syndrome: prenatal diagnosis with 2- and 3-dimensional sonography. J Ultrasound Med. 28(3):401-4, 2009
Wilmink FA et al: Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther. 26(1):50-3, 2009
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
Deardorff MA et al: Cornelia de Lange syndrome. 1993-, 2005
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
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
Boyle MI et al: Cornelia de Lange syndrome. Clin Genet. 88(1):1-12, 2015
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
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
Yuan B et al: Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 125(2):636-51, 2015
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
Muto A et al: Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet. 10(9):e1004671, 2014
Carretero M et al: Cohesin ties up the genome. Curr Opin Cell Biol. Epub ahead of print, 2010
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
Liu J et al: Cornelia de Lange syndrome. Adv Exp Med Biol. 685:111-23, 2010
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
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
Oliver C et al: Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A. 152A(5):1127-35, 2010
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
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
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
Chong K et al: Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn. 29(5):489-94, 2009
Dorsett D et al: On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 1151:22-37, 2009
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
Liu J et al: Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 76(4):303-14, 2009
Liu J et al: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 7(5):e1000119, 2009
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
Sepulveda W et al: Brachmann-de Lange Syndrome: prenatal diagnosis with 2- and 3-dimensional sonography. J Ultrasound Med. 28(3):401-4, 2009
Wilmink FA et al: Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther. 26(1):50-3, 2009
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
Deardorff MA et al: Cornelia de Lange syndrome. 1993-, 2005
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
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
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