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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
Citation: Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 28, n. 2, p. 181-190, 2005.
Rights: aberto
Identifier DOI: 10.1590/S1415-47572005000200001
Date Issue: 1-Jan-2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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