Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados Genet. Mol. Biol. (2) Autor Cintra,Maria Letícia (2) Marques-de-Faria,Antonia Paula (2) Steiner,Carlos Eduardo (2) Oliveira,Gisele Viana de (1) Palavra-chave Bart-Pumphrey syndrome (1) Cutis laxa (1) De Barsy syndrome (1) Deafness (1) Gerodermia osteodysplastica (1) Hyperkeratosis (1) Knuckle pads (1) Palmoplantar keratoderma (1) Wrinkly skin syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2005 (1) 2003 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review Genet. Mol. Biol. Steiner,Carlos Eduardo; Cintra,Maria Letícia; Marques-de-Faria,Antonia Paula. Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD), gerodermia osteodysplastica (GO) and wrinkly-skin syndrome (WWS). It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cutis laxa; De Barsy syndrome; Gerodermia osteodysplastica; Wrinkly skin syndrome. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001 Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome Genet. Mol. Biol. Oliveira,Gisele Viana de; Steiner,Carlos Eduardo; Cintra,Maria Letícia; Marques-de-Faria,Antonia Paula. 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. Tipo: Info:eu-repo/semantics/other Palavras-chave: Deafness; Knuckle pads; Palmoplantar keratoderma; Hyperkeratosis; Bart-Pumphrey syndrome. Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000200004 Registros recuperados: 2 Primeira ... 1 ... Última

Empresa Brasileira de Pesquisa Agropecuária - Embrapa Todos os direitos reservados, conforme Lei n° 9.610 Política de Privacidade Área restrita		Embrapa Parque Estação Biológica - PqEB s/n° Brasília, DF - Brasil - CEP 70770-901 Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC: https://www.embrapa.br/fale-conosco