1.
Genet. mol. biol
;
26(2): 129-131, Jun. 2003. ilus
Article
in English
| LILACS
| ID: lil-345961
ABSTRACT
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed