Severe dystrophy in DiGeorge syndrome

• 作 者: Barnabás Rózsai kos Kiss Gyrgyi Csábi Márta Czakó Tamás Decsi
• 机 构: Department of Pediatrics,University of Pécs,Pécs H-7623, Hungary,Department of Medical Genetics and
• 出 处: World Journal of Gastroenterology
• 发表日期: 2009年11期
• 关键词: dystrophy regurgitation facial allergy eliminating excluded nasal possibility un

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.

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.