Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

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 condi...

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Bibliographic Details

Published in:	Genetics and Molecular Biology
Main Authors:	Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Genética 2003-01-01
Subjects:	deafness knuckle pads palmoplantar keratoderma hyperkeratosis Bart-Pumphrey syndrome
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000200004