Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.
The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.
Koné-Paut
I
I
Department of Pediatrics, Hôpital Nord, Marseilles, France.
Hesse
S
S
Palix
C
C
Rey
R
R
Rémédiani
K
K
Garnier
J M
JM
Berbis
P
P
D002675:Child, Preschool; D003638:Deafness / Q000151:congenital* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis*; D007231:Infant, Newborn; D007634:Keratitis / Q000151:congenital* / Q000175:diagnosis; D008297:Male; D010375:Pedigree; D013577:Syndrome