Severe dystrophy in 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.
Rózsai
Barnabás
B
Department of Pediatrics, University of Pécs, József Attila u. 7., Pécs H-7623, Hungary. barnabas.rozsai@aok.pte.hu
Kiss
Akos
A
Csábi
Györgyi
G
Czakó
Márta
M
Decsi
Tamás
T
D000818:Animals; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008892:Milk; D016269:Milk Hypersensitivity / Q000150:complications; D011859:Radiography