Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.
Ramer
J C
JC
Department of Pediatrics, Milton S Hershey Medical Center, Pennsylvania 17033.
Vasily
D B
DB
Ladda
R L
RL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D005348:Fibrocystic Breast Disease / Q000235:genetics; D006229:Hand Dermatoses / Q000235:genetics; D006311:Hearing Disorders / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007642:Keratosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome