title: [Williams-Beuren syndrome in combination with celiac disease].
abstract: At age 5 years coeliac disease was diagnosed in a boy with Williams-Beuren syndrome. Gastrointestinal symptoms may be similar in both disorders. Short stature, not only in comparison to the normal population but also in comparison to syndrome-specific growth standards, and failure to thrive led to the diagnosis coeliac disease. During the first year of dietetic therapy the boy showed marked weight gain, catch-up growth and a normalisation of red blood count. Gliadin-IgG antibodies and endomysium-IgA antibodies who were positive before treatment were no longer detectable. Our case demonstrates that syndrome-specific growth standards are helpful even though the combination of Williams-Beuren syndrome with a second disorder is very unlikely (Williams-Beuren syndrome and coeliac disease are to be expected in 1:13.7-1:25 millions).
authors.affiliation: Klinik für Allgemeine Pädiatrie, Christian-Albrechts-Universität Kiel.
authors.forename: R
authors.initials: R
authors.lastname: Pankau
authors.forename: C J
authors.initials: CJ
authors.lastname: Partsch
authors.forename: A
authors.initials: A
authors.lastname: Gosch
authors.forename: R
authors.initials: R
authors.lastname: Santer
mesh_terms: D002446:Celiac Disease / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005147:Facial Bones / Q000002:abnormalities*; D005183:Failure to Thrive / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005500:Follow-Up Studies; D005903:Gliadin / Q000008:administration & dosage; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D005903:Gliadin