de lange syndrome

Summary

Summary: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

Top Publications

  1. Liu J, Baynam G. Cornelia de Lange syndrome. Adv Exp Med Biol. 2010;685:111-23 pubmed
    Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, ..
  2. Huang W, Porto M. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome. Obstet Gynecol. 2002;99:956-8 pubmed
    Cornelia de Lange syndrome is a genetic disorder associated with delayed growth and characteristic facial features. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome...
  3. Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff M, Menga S, et al. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res. 2012;11:6111-23 pubmed publisher
    Mutations in cohesin genes have been identified in Cornelia de Lange syndrome (CdLS), but its etiopathogenetic mechanisms are still poorly understood...
  4. Rhodes J, Bentley F, Print C, Dorsett D, Misulovin Z, Dickinson E, et al. Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved. Dev Biol. 2010;344:637-49 pubmed publisher
    ..Mutations in sister chromatid cohesion proteins underlie the human developmental condition, Cornelia de Lange syndrome. Roles for cohesin in regulating gene expression, sometimes in combination with CCCTC-binding factor (CTCF), ..
  5. Sakai Y, Watanabe T, Kaga K. Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol. 2002;66:63-9 pubmed
    To examine auditory brainstem evoked responses (ABRs) of children with Cornelia de Lange syndrome (CDLS) to evaluate hearing and the utility of hearing aids in hearing impaired cases...
  6. Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, et al. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn. 2009;29:489-94 pubmed publisher
    Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities...
  7. Gillis L, McCallum J, Kaur M, Descipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75:610-23 pubmed
    The Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal ..
  8. Moss J, Oliver C, Berg K, Kaur G, Jephcott L, Cornish K. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard. 2008;113:278-91 pubmed publisher
    ..Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10...
  9. Mannini L, Liu J, Krantz I, Musio A. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 2010;31:5-10 pubmed publisher
    ..Recently, it has been demonstrated that mutations in the SMC1A gene are responsible for Cornelia de Lange syndrome (CdLS)...

More Information

Publications86

  1. Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, et al. Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A. 2005;135:103-5 pubmed
  2. Baynam G, Goldblatt J, Walpole I. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. Am J Med Genet A. 2008;146A:1565-70 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects...
  3. Musio A, Selicorni A, Focarelli M, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet. 2006;38:528-30 pubmed
    Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation...
  4. Dorsett D, Krantz I. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 2009;1151:22-37 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is genetically heterogeneous and is usually sporadic, occurring approximately once per 10,000 births...
  5. Selicorni A, Colli A, Passarini A, Milani D, Cereda A, Cerutti M, et al. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A. 2009;149A:1268-72 pubmed publisher
    Congenital heart defects (CHDs) have been estimated to occur in approximately 20% of patients with Brachmann-de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470)...
  6. Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization. Am J Med Genet A. 2007;143A:1191-7 pubmed
    We report on a 2-year-old Japanese girl with Cornelia-de Lange syndrome (CdLS) who had mental and growth retardation, together with characteristic facial anomalies and mild extremity malformations...
  7. Kline A, Grados M, Sponseller P, Levy H, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:248-60 pubmed
    Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years...
  8. Collis L, Moss J, Jutley J, Cornish K, Oliver C. Facial expression of affect in children with Cornelia de Lange syndrome. J Intellect Disabil Res. 2008;52:207-15 pubmed publisher
    Individuals with Cornelia de Lange syndrome (CdLS) have been reported to show comparatively high levels of flat and negative affect but there have been no empirical evaluations...
  9. Dorsett D. Adherin: key to the cohesin ring and cornelia de Lange syndrome. Curr Biol. 2004;14:R834-6 pubmed
    ..New studies indicate that adherin activity is coordinated with DNA replication and chromosome segregation, and that its dosage is critical for gene expression and human development. ..
  10. Revenkova E, Focarelli M, Susani L, Paulis M, Bassi M, Mannini L, et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009;18:418-27 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation...
  11. Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, et al. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. Genet Med. 2007;9:188-94 pubmed
    This study reviews prenatal findings in two cases with a suspected diagnosis of Cornelia de Lange Syndrome, a multisystem disorder characterized by somatic defects and mental retardation, that were later confirmed by postmortem ..
  12. Russell K, Ming J, Patel K, Jukofsky L, Magnusson M, Krantz I. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet. 2001;104:267-76 pubmed
    The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement...
  13. Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet. 2007;72:98-108 pubmed
    Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, upper limb abnormalities, growth and cognitive retardation. About half of all patients with CdLS carry mutations in the NIPBL gene...
  14. Dorsett D. Cohesin, gene expression and development: lessons from Drosophila. Chromosome Res. 2009;17:185-200 pubmed publisher
    ..The Drosophila studies have provided unique insights into the aetiology of Cornelia de Lange syndrome (CdLS), which is caused by mutations affecting sister chromatid cohesion proteins in humans...
  15. Wygnanski Jaffe T, Shin J, Perruzza E, Abdolell M, Jackson L, Levin A. Ophthalmologic findings in the Cornelia de Lange Syndrome. J AAPOS. 2005;9:407-15 pubmed
    Cornelia de Lange Syndrome (CdLS) is a disorder caused in many patients by a mutation in the NIPBL gene with a dominant pattern of inheritance characterized by mental retardation, prenatal and postnatal growth retardation, upper-limb ..
  16. Krantz I, McCallum J, Descipio C, Kaur M, Gillis L, Yaeger D, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004;36:631-5 pubmed
    Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ..
  17. Gervasini C, Pfundt R, Castronovo P, Russo S, Roversi G, Masciadri M, et al. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes. Clin Genet. 2008;74:531-8 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by varied clinical signs including facial dysmorphism, pre- and post-natal growth defects, small hands and malformations ..
  18. Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, et al. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet. 2007;15:143-9 pubmed
    Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the ..
  19. Liu J, Krantz I. Cohesin and human disease. Annu Rev Genomics Hum Genet. 2008;9:303-20 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function...
  20. Kline A, Krantz I, Sommer A, Kliewer M, Jackson L, Fitzpatrick D, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007;143A:1287-96 pubmed
    Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange syndrome, is a well-described multiple malformation syndrome typically involving proportionate small stature, developmental delay, specific facial features, major ..
  21. Liu J, Feldman R, Zhang Z, Deardorff M, Haverfield E, Kaur M, et al. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009;30:1535-42 pubmed publisher
    Cornelia de Lange Syndrome (CdLS) is a dominantly inherited heterogeneous genetic disorder with multisystem abnormalities...
  22. Liu J, Zhang Z, Bando M, Itoh T, Deardorff M, Clark D, et al. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 2009;7:e1000119 pubmed publisher
    ..or cohesin structural components SMC1A and SMC3 result in the multisystem developmental disorder Cornelia de Lange Syndrome (CdLS)...
  23. Deardorff M, Wilde J, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012;90:1014-27 pubmed publisher
    ..These results underscore the essential role of RAD21 in eukaryotes and emphasize the need for further understanding of the role of cohesin in human development...
  24. Murray J, Walayat M, Gillett P, Sharkey F, Rajan D, Carter N, et al. An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL. Clin Dysmorphol. 2012;21:22-3 pubmed publisher
    Cornelia de Lange Syndrome (CdLS) is a multisystem disorder with a live birth prevalence of approximately one per 15 000...
  25. Tonkin E, Wang T, Lisgo S, Bamshad M, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004;36:636-41 pubmed
    Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects...
  26. Lee W, Brandt J, Mannis M, Huang C, Rabin G. Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings. Cornea. 2003;22:178-80 pubmed
    To review the ocular surface and anterior segment findings in Brachmann-de Lange syndrome and describe a new case involving aniridia and congenital glaucoma.
  27. Huisman S, Redeker E, Maas S, Mannens M, Hennekam R. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet. 2013;50:339-44 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a well known malformation syndrome for which five causative genes are known, accounting for ?55-65% of cases...
  28. Jyonouchi S, Orange J, Sullivan K, Krantz I, DEARDORFF M. Immunologic features of Cornelia de Lange syndrome. Pediatrics. 2013;132:e484-9 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality...
  29. Kawauchi S, Calof A, Santos R, Lopez Burks M, Young C, Hoang M, et al. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet. 2009;5:e1000650 pubmed publisher
    Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene...
  30. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage E, Cheung S, et al. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010;53:378-82 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital anomaly disorder characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects...
  31. Zhang B, Jain S, Song H, Fu M, Heuckeroth R, Erlich J, et al. Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. Development. 2007;134:3191-201 pubmed
    ..Mutations in cohesion proteins are associated with the developmental disorder Cornelia de Lange syndrome (CdLS) in humans...
  32. Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, et al. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet. 2004;41:e128 pubmed
  33. Descipio C, Kaur M, Yaeger D, Innis J, Spinner N, Jackson L, et al. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A. 2005;137A:276-82 pubmed
    Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features...
  34. Dorsett D, Eissenberg J, Misulovin Z, Martens A, Redding B, McKim K. Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila. Development. 2005;132:4743-53 pubmed
    ..Such effects of cohesin on gene expression could be responsible for many of the developmental deficits that occur in Cornelia de Lange syndrome, which is caused by mutations in the human homolog of Nipped-B.
  35. Castronovo P, Delahaye Duriez A, Gervasini C, Azzollini J, Minier F, Russo S, et al. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?. Clin Genet. 2010;78:560-4 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a rare, congenital syndrome characterized by growth retardation, dysmorphic face, mental retardation and limb reduction defects. Clinical manifestations of CdLS can be extremely variable...
  36. Borck G, Zarhrate M, Bonnefont J, Munnich A, Cormier Daire V, Colleaux L. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat. 2007;28:205-6 pubmed
    Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, microcephaly, and various malformations...
  37. Bhuiyan Z, Klein M, Hammond P, van Haeringen A, Mannens M, van Berckelaer Onnes I, et al. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J Med Genet. 2006;43:568-75 pubmed
    Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the ..
  38. Bhuiyan Z, Zilfalil B, Hennekam R. A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings. Singapore Med J. 2006;47:724-7 pubmed
    The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs...
  39. Dorsett D. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma. 2007;116:1-13 pubmed
    ..Effects on chromatid cohesion are apparent in RBS/SC syndrome, but data from yeast and Drosophila point to the likelihood that changes in expression of genes located in heterochromatin could contribute to the developmental deficits...
  40. Fernández García R, Pérez Mencía T, Gutiérrez Jodra A, Lopez Garcia A. Anesthetic management with laryngeal mask in a child with Brachmann-de Lange syndrome. Paediatr Anaesth. 2006;16:698-700 pubmed
  41. Jackson L, Kline A, Barr M, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet. 1993;47:940-6 pubmed
    Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group...
  42. Zankl A, Rampa A, Schinzel A. Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?. Am J Med Genet A. 2003;118A:358-61 pubmed
    Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and a distinctive craniofacial appearance...
  43. Pie J, Gil Rodríguez M, Ciero M, López Viñas E, Ribate M, Arnedo M, 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. 2010;152A:924-9 pubmed publisher
    Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations...
  44. Tonkin E, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, et al. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet. 2004;115:139-48 pubmed
    Cornelia de Lange syndrome (CdLS) is a rare developmental malformation syndrome characterised by mental handicap, growth retardation, distinctive facial features and limb reduction defects. The vast majority of CdLS cases are sporadic...
  45. Strachan T. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev. 2005;15:258-64 pubmed
    Cornelia de Lange Syndrome (CdLS) is a rare multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and many other abnormalities...
  46. Kim I, Park J, Choi W. A Korean case of Cornelia de Lange syndrome. Korean J Ophthalmol. 2005;19:153-5 pubmed
    Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems.
  47. Deardorff M, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007;80:485-94 pubmed
    Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively...
  48. Pehlivan D, Hullings M, Carvalho C, Gonzaga Jauregui C, Loy E, Jackson L, et al. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012;14:313-22 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by mental retardation, limb abnormalities, distinctive facial features, and hirsutism...
  49. Muto A, Calof A, Lander A, Schilling T. Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol. 2011;9:e1001181 pubmed publisher
    Cornelia de Lange Syndrome (CdLS) is the founding member of a class of multi-organ system birth defect syndromes termed cohesinopathies, named for the chromatin-associated protein complex cohesin, which mediates sister chromatid cohesion...
  50. Liu J, Krantz I. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet. 2009;76:303-14 pubmed publisher
    Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is classically characterized by typical facial features, growth and mental retardation, ..
  51. Mannini L, Cucco F, Quarantotti V, Krantz I, Musio A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat. 2013;34:1589-96 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder...
  52. Hyman P, Oliver C, Hall S. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard. 2002;107:146-54 pubmed
    ..behavior, self-restraint, and compulsive behaviors have been described as features of Cornelia de Lange syndrome. We examined whether individuals with this syndrome displaying SIB and self-restraint exhibit more ..
  53. Le Vaillant C, Quere M, David A, Berlivet M, Boog G. Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther. 2004;19:155-9 pubmed
    Brachmann-de Lange syndrome is a congenital disease characterized by severe mental retardation, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism, and a typical face...
  54. Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, et al. Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. PLoS ONE. 2009;4:e5232 pubmed publisher
    Cornelia de Lange syndrome (CdLS), a disorder caused by mutations in cohesion proteins, is characterized by multisystem developmental abnormalities...
  55. Remeseiro S, Cuadrado A, Kawauchi S, Calof A, Lander A, Losada A. Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Biochim Biophys Acta. 2013;1832:2097-102 pubmed publisher
    Cornelia de Lange Syndrome (CdLS) is a genetic disorder linked to mutations in cohesin and its regulators. To date, it is unclear which function of cohesin is more relevant to the pathology of the syndrome...
  56. Sarimski K. Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. J Commun Disord. 2002;35:483-500 pubmed
    ..A syndrome-specific low rate of communicative initiatives indicates a special problem for designing intervention programs which depend on opportunities for facilitating strategies...
  57. Deardorff M, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012;489:313-7 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core ..
  58. Schrier S, Sherer I, Deardorff M, Clark D, Audette L, Gillis L, et al. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A. 2011;155A:3007-24 pubmed publisher
    To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 ..
  59. Braunholz D, Hullings M, Gil Rodríguez M, Fincher C, Mallozzi M, Loy E, et al. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet. 2012;20:271-6 pubmed publisher
    Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies...
  60. Roposch A, Bhaskar A, Lee F, Adedapo S, Mousny M, Alman B. Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients. J Pediatr Orthop B. 2004;13:118-22 pubmed
    Brachmann-de Lange syndrome (BDLS) is a disorder of unknown cause that is recognized on the basis of characteristic facies in association with growth retardation, mental retardation and, in many cases, upper limb anomalies...
  61. Aitken D, Ireland M, Berry E, Crossley J, Macri J, Burn J, et al. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn. 1999;19:706-10 pubmed
    ..were collected from 19 pregnancies which resulted in the birth of a child with the classical Cornelia de Lange syndrome phenotype ascertained by careful clinical review...
  62. Gervasini C, Picinelli C, Azzollini J, Rusconi D, Masciadri M, Cereda A, et al. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet. 2013;14:41 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects...
  63. Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, et al. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur J Hum Genet. 2012;20:734-41 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a rare multisystemic congenital anomaly disorder that is characterised by intellectual disability and growth retardation, congenital heart defects, intestinal anomalies, facial dysmorphism (including ..
  64. Oliveira J, Dias C, Redeker E, Costa E, Silva J, Reis Lima M, et al. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat. 2010;31:1216-22 pubmed publisher
    ..lovd.nl/NIPBL) implicated in Cornelia de Lange Syndrome (CdLS)...
  65. Bhuiyan Z, Stewart H, Redeker E, Mannens M, Hennekam R. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet. 2007;15:505-8 pubmed
    Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, malformations of the upper limbs, and delay in growth and development...
  66. Park H, Oh J, Park S, Nam S, Kim C, Kim K. Isolated persistent fifth aortic arch in a patient with Cornelia de Lange syndrome. Pediatr Cardiol. 2005;26:112-4 pubmed
  67. Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, et al. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol. 2006;124:552-7 pubmed
    To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings.
  68. Luzzani S, Macchini F, Valade A, Milani D, Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A. 2003;119A:283-7 pubmed
    ..previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS)...
  69. Ellaithi M, Gisselsson D, Nilsson T, Elagib A, Fadl Elmula I, Abdelgadir M. A case of Cornelia de Lange syndrome from Sudan. BMC Pediatr. 2007;7:6 pubmed
    Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the ..
  70. Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N. Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. Congenit Anom (Kyoto). 2010;50:129-32 pubmed publisher
    We report herein a case of Brachmann-de Lange syndrome complicated with congenital diaphragmatic hernia in which a NIPBL gene mutation was identified...
  71. McNairn A, Gerton J. Cohesinopathies: One ring, many obligations. Mutat Res. 2008;647:103-11 pubmed publisher
    ..Now modern genetic, biochemical, and cell biological approaches may be applied to determine the underlying mechanism of these genetic disorders...
  72. Mizuno J, Ichiishi N, In Nami H, Hanaoka K. [Anesthetic management in a patient with Cornelia de Lange syndrome]. Masui. 2004;53:921-4 pubmed
    An eight-year-old boy with Cornelia de Lange syndrome underwent left inguinal hernioplasty and orchiopexy under general anesthesia...
  73. Rohatgi S, Clark D, Kline A, Jackson L, Pie J, Siu V, et al. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A. 2010;152A:1641-53 pubmed publisher
    Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis is identification of diagnostic facial features...
  74. McConnell V, Brown T, Morrison P. An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance. Clin Dysmorphol. 2003;12:241-4 pubmed
    The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate...
  75. Krantz I, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, et al. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet. 2001;101:120-9 pubmed
    Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth ..
  76. Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont J, Munnich A, et al. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. Hum Mutat. 2006;27:731-5 pubmed
    Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations...
  77. Grau Carbó J, López Jiménez J, Giménez Prats M, Sànchez Molins M. Cornelia de Lange syndrome: a case report. Med Oral Patol Oral Cir Bucal. 2007;12:E445-8 pubmed
    ..After completing the necessary pre-operatory preparations, the entire odontological treatment was carried out under general aesthesia, due to the patient's total lack of collaboration...