Open AccessSevere dystrophy in DiGeorge syndrome
Author(s) -
Barnabás Rózsai,
Ákos Kiss,
Györgyi Csábí,
Márta Czakó,
Támas Décsi
Publication year - 2009
Publication title -
world journal of gastroenterology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.15.1391
Subject(s) - digeorge syndrome , medicine , malabsorption , girl , pediatrics , gastroenterology , dermatology , biology , genetics , psychiatry
We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow's milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was suspected and was confirmed by fluorescence in situ hybridization. The authors suggest a new feature associated with DiGeorge syndrome.