[A case of CHARGE with fibrocystic disease of the pancreas].
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.
Giorgetti
R
R
U. O. di Pediatria, Ospedale Galmarini, Tradate Varese.
Gelso
C
C
Riganti
G
G
Bussolini
A
A
Guerraggio
L
L
Brugnoni
G
G
D000015:Abnormalities, Multiple; D003550:Cystic Fibrosis / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
Un caso di associazione CHARGE e fibrosi cistica del pancreas.