Literature DB >> 8413335

[Williams-Beuren syndrome in combination with celiac disease].

R Pankau1, C J Partsch, A Gosch, R Santer.   

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).

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Year:  1993        PMID: 8413335

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd        ISSN: 0026-9298            Impact factor:   0.323


  2 in total

1.  Genomewide linkage analysis of celiac disease in Finnish families.

Authors:  Jianjun Liu; Suh-Hang Juo; Päivi Holopainen; Joseph Terwilliger; Xiaomei Tong; Adina Grunn; Miguel Brito; Peter Green; Kirsi Mustalahti; Markku Mäki; T Conrad Gilliam; Jukka Partanen
Journal:  Am J Hum Genet       Date:  2001-11-19       Impact factor: 11.025

2.  Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.

Authors:  Stefano Stagi; Elisabetta Lapi; Maria Gabriella D'Avanzo; Giancarlo Perferi; Silvia Romano; Sabrina Giglio; Silvia Ricci; Chiara Azzari; Francesco Chiarelli; Salvatore Seminara; Maurizio de Martino
Journal:  BMC Med Genet       Date:  2014-05-23       Impact factor: 2.103

  2 in total

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