Literature DB >> 19294771

Severe dystrophy in DiGeorge syndrome.

Barnabás Rózsai1, Akos Kiss, Györgyi Csábi, Márta Czakó, Tamás Decsi.   

Abstract

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.

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Year:  2009        PMID: 19294771      PMCID: PMC2658840          DOI: 10.3748/wjg.15.1391

Source DB:  PubMed          Journal:  World J Gastroenterol        ISSN: 1007-9327            Impact factor:   5.742


  6 in total

1.  Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.

Authors:  P S Eicher; D M McDonald-Mcginn; C A Fox; D A Driscoll; B S Emanuel; E H Zackai
Journal:  J Pediatr       Date:  2000-08       Impact factor: 4.406

2.  Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome).

Authors:  Maria Cristina Digilio; Aldo Giannotti; Massimo Castro; Franco Colistro; Francesca Ferretti; Bruno Marino; Bruno Dallapiccola
Journal:  Am J Med Genet A       Date:  2003-09-01       Impact factor: 2.802

Review 3.  DiGeorge syndrome: new insights.

Authors:  Elizabeth Goldmuntz
Journal:  Clin Perinatol       Date:  2005-12       Impact factor: 3.430

4.  Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome.

Authors:  Nathalie Rommel; Geoff Davidson; Tim Cain; Geoff Hebbard; Taher Omari
Journal:  J Pediatr Gastroenterol Nutr       Date:  2008-01       Impact factor: 2.839

Review 5.  22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.

Authors:  B F Cuneo
Journal:  Curr Opin Pediatr       Date:  2001-10       Impact factor: 2.856

Review 6.  Guidelines for the diagnosis and management of cow's milk protein allergy in infants.

Authors:  Yvan Vandenplas; Sibylle Koletzko; Erika Isolauri; David Hill; Arnold P Oranje; Martin Brueton; Annamaria Staiano; Christophe Dupont
Journal:  Arch Dis Child       Date:  2007-10       Impact factor: 3.791

  6 in total

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