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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gastroesophageal dysfunction in Brachmann-de Lange syndrome.

Two children with the Brachmann-de Lange syndrome and severe gastroesophageal reflux are described. Both had esophagitis, recurrent severe anemia, and one had recurrent episodes of aspiration pneumonia and clubbing. Medical treatment failed in both children. One child responded dramatically to surgery, but the other died before surgery could be attempted. Our experience and a review of the literature suggest that early recognition and surgical treatment of gastroesophageal reflux will reduce morbidity and mortality in children with this syndrome.[1]


  1. Gastroesophageal dysfunction in Brachmann-de Lange syndrome. Rosenbach, Y., Zahavi, I., Dinari, G. Am. J. Med. Genet. (1992) [Pubmed]
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