| Literature DB >> 1474974 |
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.Entities:
Mesh:
Year: 1992 PMID: 1474974
Source DB: PubMed Journal: Minerva Pediatr ISSN: 0026-4946 Impact factor: 1.312