Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/34286
Type: Artigo de periódico
Title: Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
Author: Oliveira, Gisele Viana de
Steiner, Carlos Eduardo
Cintra, Maria Letícia
Marques-de-Faria, Antonia Paula
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.
Subject: deafness
knuckle pads
palmoplantar keratoderma
hyperkeratosis
Bart-Pumphrey syndrome
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572003000200004
Address: http://dx.doi.org/10.1590/S1415-47572003000200004
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000200004
Date Issue: 1-Jan-2003
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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