Literature DB >> 1474974

[A case of CHARGE with fibrocystic disease of the pancreas].

R Giorgetti1, C Gelso, G Riganti, A Bussolini, L Guerraggio, G Brugnoni.   

Abstract

The Authors describe a case of CHARGE association (CA) with fibrocystic disease of the pancreas (FCP). The CA is characterized by seven mayor defects (colobomatous malformation, heart defect, atresia choanae, growth and mental deficiency, genital hypoplasia, ear anomalies and/or deafness). Four of this seven defects are necessary for the diagnosis. Other diseases and anomalies associated with CA are examined. The peculiarity of contemporaneous presence of FCP and the seriousness of the prognosis is pointed out.

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Year:  1992        PMID: 1474974

Source DB:  PubMed          Journal:  Minerva Pediatr        ISSN: 0026-4946            Impact factor:   1.312


  1 in total

1.  18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report.

Authors:  Elide Spinelli; Silviana Timpano; Annalisa Fogazzi; Silvia Dester; Susanna Milianti; Rita Padoan
Journal:  Ital J Pediatr       Date:  2011-05-17       Impact factor: 2.638

  1 in total

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