Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/34300
Type: Artigo de periódico
Title: Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review
Author: Steiner, Carlos Eduardo
Cintra, Maria Letícia
Marques-de-Faria, Antonia Paula
Abstract: 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 concerning this diagnosis is also presented.
Subject: cutis laxa
De Barsy syndrome
gerodermia osteodysplastica
wrinkly skin syndrome
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572005000200001
Address: http://dx.doi.org/10.1590/S1415-47572005000200001
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001
Date Issue: 1-Jan-2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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