Ichthyosis, deafness, and Hirschsprung's disease.
An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.
Mallory
S B
SB
University of Arkansas for Medical Sciences, Little Rock.
Haynie
L S
LS
Williams
M L
ML
Hall
W
W
D003638:Deafness / Q000151:congenital*; D006627:Hirschsprung Disease; D006801:Humans; D007057:Ichthyosis / Q000151:congenital*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome