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Coeliac disease and cornelia de Lange Syndrome: lack of association
Author(s) -
Macchini Francesco,
Selicorni Angelo,
Luzzani Sergio,
Milani Donatella,
Roggero Paola,
Valadè Alberto
Publication year - 2007
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2007.00468.x
Subject(s) - medicine , cornelia de lange syndrome , coeliac disease , gerd , short stature , gastroenterology , costello syndrome , reflux , growth retardation , disease , pediatrics , pregnancy , colorectal cancer , cancer , biology , kras , genetics
Objectives: 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. Aim: 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.