title: Coeliac disease and Cornelia de Lange syndrome: lack of association.
abstract: OBJECTIVE
  Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by growth and mental retardation, abnormalities of the upper limbs, gastroesophageal dysfunction, cardiac, ophthalmologic and genitourinary anomalies, hirsutism and characteristic facial features. Growth retardation, behavioural disturbances and gastro-intestinal manifestations can mimic coeliac disease (CD). Genetic conditions like Down, Williams and Turner syndromes can be associated to CD.
  
  
  OBJECTIVE
  To establish if gastro-intestinal signs and symptoms in CdLS patients are due to CD.
  
  
  METHODS
  Multiple duodenal biopsies were performed in 24 CdLS patients (mean age 12 years) during the endoscopic follow-up for gastro-esophageal reflux disease (GERD). Histological assessment was performed. Anthropometric parameters were recorded and plotted on the growth charts specific for CdLS patients. Antiendomysium and antitransglutaminase antibodies and HLA-DQ2/DQ8 were tested in all patients.
  
  
  RESULTS
  All CdLS patients were growth retarded, although weight and height were within the normal limits using the specific growth charts for CdLS. No histological abnormalities were noted in the intestinal biopsy specimens. Serum levels of antiendomysium and antitransglutaminase antibodies were always normal. The HLA-DQ2/DQ8 was absent in all patients.
  
  
  CONCLUSIONS
  While a high prevalence of gastro-intestinal disorders has been described in CdLS children, no association with CdLS has been found.
authors.affiliation: Pediatric Surgery Unit, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy. francesco.macchini@unimi.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Macchini
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Sergio
authors.initials: S
authors.lastname: Luzzani
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Paola
authors.initials: P
authors.lastname: Roggero
authors.forename: Alberto
authors.initials: A
authors.lastname: Valadè
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002446:Celiac Disease / Q000453:epidemiology / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D003635:De Lange Syndrome / Q000453:epidemiology / Q000503:physiopathology*; D005260:Female; D005767:Gastrointestinal Diseases; D006130:Growth Disorders; D006801:Humans; D007070:Immunoglobulin A; D007558:Italy / Q000453:epidemiology; D008297:Male; D001523:Mental Disorders; D010865:Pilot Projects; D015995:Prevalence; D012307:Risk Factors
chemical_list: D007070:Immunoglobulin A