Barrett's esophagus and Cornelia de Lange Syndrome

Acta Paediatrica, International Journal of Paediatrics

Volumn 99, Issue 9, 2010, Pages 1407-1410

  MacChini, Francesco ^a   Fava, Giorgio ^b   Selicorni, Angelo ^c   Torricelli, Maurizio ^a   Leva, Ernesto ^a   Valadè, Alberto ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b V BUZZI CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Barrett's Esophagus; Cornelia de Lange Syndrome; Gastro oesophageal reflux disease

Indexed keywords

PROTON PUMP INHIBITOR;

ABDOMINAL RADIOGRAPHY; ADOLESCENT; ADULT; ANTIREFLUX OPERATION; ARTICLE; BARRETT ESOPHAGUS; CHILD; CLINICAL ARTICLE; COLUMNAR EPITHELIUM; CONTROLLED STUDY; DE LANGE SYNDROME; DYSPHAGIA; END TO END ANASTOMOSIS; ESOPHAGEAL ADENOCARCINOMA; ESOPHAGOSCOPY; ESOPHAGUS BIOPSY; ESOPHAGUS MUCOSA; ESOPHAGUS RESECTION; ESOPHAGUS STENOSIS; FEMALE; FOLLOW UP; GASTROESOPHAGEAL REFLUX; HUMAN; MALE; METAPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PH MEASUREMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; REMISSION; SCHOOL CHILD; STOMACH FUNDOPLICATION; VOMITING; WEIGHT REDUCTION;

ADOLESCENT; ADULT; AGE OF ONSET; BARRETT ESOPHAGUS; CHILD; CHILD, PRESCHOOL; DE LANGE SYNDROME; DELAYED DIAGNOSIS; ENDOSCOPY; FEMALE; FOLLOW-UP STUDIES; GASTROESOPHAGEAL REFLUX; HUMANS; INFANT; ITALY; MALE;

EID: 77955885271     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2010.01834.x     Document Type: Article

References (31)

1. Brachmann W. Ein fall von symmetrischer monodaktylie durh ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftigkeit, halsrippen, beeharung). Jb Kinderheilk 1916 84 : 224 35.
2. De Lange C. Sur un type noveau de degeneration (typus amstelodamensis). Arch Med Enf 1933 36 : 713 8.
3. Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 1993 47 : 1053 8.
4. Van Allen MI, Filippi G, Siegel-Bartelt J, et al. Clinical variability within Brachmann-de-Lange syndrome: a proposed classification system. Am J Med Genet 1993 47 : 947 58.
5. Revenkova E, Focarelli ML, Susani L, et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 2009 3 : 418 27.
6. Gervasini C, Pfundt R, Castronovo P, 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.
7. Luzzani S, Macchini F, Valadé A, et al. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 2003 119 : 283 7.
8. Sommer A. Occurrence of the Sandifer complex in the Bachmann-de Lange syndrome. Am J Med Genet 1993 47 : 1026 8.
9. Malesci A, Savarino V, Zentilin P, et al. Partial regression of Barrett's esophagus by long-term therapy with high-dose omeprazole. Gastrointest Endosc 1996 44 : 700 5.
10. Barrett NR. Chronic peptic ulcer of the oesophagus and 'oesophagitis'. Br J Surg 1950 38 : 175 82.
11. Sharma P. Low-grade dysplasia in Barrett's esophagus. Gastroenterology 2004 127 : 1233 8.
12. Kline AD, Grados M, Sponseller P, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet 2007 145C : 248 60.
13. Sharma P, Dent J, Armstrong D, et al. The development and validation of an endoscopic grading system for Barrett's esophagus: the Prague C & M criteria. Gastroenterology 2006 131 : 1392 9.
14. Miller G, Monnier P, Savary M, et al. An esophageal carcinoma limited to the mucosa and submucosa. Z Gastroenterol 1978 16 : 699 700.
15. Guillem PG. How to make a Barrett esophagus: pathophysiology of columnar metaplasia of the esophagus. Dig Dis Sci 2005 50 : 415 24.
16. Schuchert MJ, McGrath K, Buenaventura PO. Barrett's esophagus: diagnostic approaches and surveillance. Semin Thorac Cardiovasc Surg 2005 17 : 301 12.
17. Opitz JM. The Brachman-De Lange Sindrome. Am J Med Genet 1985 22 : 89 102.
18. Krantz ID, McCallum J, DeScipio C, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Gen 2004 36 : 631 5.
19. Tonkin ET, Wang TJ, Lisgo S, et al. 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.
20. Gillis LA, Mc Callum J, Kaur M, 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.
21. Hulinsky R, Byrne GL, Lowiichik A, et al. Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. Am J Med Genet A 2005 137 : 336 8.
22. Musio A, Selicorni A, Focarelli ML, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006 38 : 528 30.
23. Macchini F, Selicorni A, Luzzani S, et al. Coeliac disease and Cornelia de Lange syndrome: lack of association. Acta Paediatr 2007 96 : 1518 20.
24. Duvall GA, Walden DT. Adenocarcinoma of the esophagus complicating Cornelia de Lange syndrome. J Clin Gastroenterol 1996 22 : 131 3.
25. Pei RS, Lin CC, Mak SC, et al. Barrett esophagus in a child with de Lange syndrome: report of one case. Acta Pediatr Taiwan 2000 41 : 155 7.
26. Shaheen N, Ransohoff DF. Gastroesophageal reflux, Barrett esophagus, and esophageal cancer: clinical applications. JAMA 2002 15 : 1982 6.
27. Shaheen N, Ransohoff DF. Gastroesophageal reflux, Barrett esophagus, and esophageal cancer: scientific review. JAMA 2002 15 : 1972 81.
28. Hassall E. Esophageal metaplasia: definition and prevalence in childhood. Gastrointest Endosc 2006 64 : 676 7.
29. El-Serag HB, Gilger MA, Shub MD, et al. The prevalence of suspected Barrett's esophagus in children and adolescents: a multicenter endoscopic study. Gastrointest Endosc 2006 64 : 671 5.
30. Guimarães EV, Marguet C, Camargos PA. Treatment of gastroesophageal reflux disease. J Pediatr 2006 82 (Suppl. 5 S133 45.
31. Parrilla P, Martínez de Haro LF, Ortiz A, Munitiz V, Molina J, Bermejo J, et al. Long-term results of a randomized prospective study comparing medical and surgical treatment of Barrett's esophagus. Ann Surg 2003 237 : 291 8.