Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
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Data
2008-08-15
Autores
Carvalho, Daniel Rocha de
Rossi, Natalia Freitas
Schellini, Silvana Artioli [UNESP]
Moretti-Ferreira, Danilo [UNESP]
Richieri-Costa, Antonio
Título da Revista
ISSN da Revista
Título de Volume
Editor
Wiley-liss
Resumo
We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition. (C) 2008 Wiley-Liss, Inc.
Descrição
Palavras-chave
blepharophimosis, craniofacial abnormalities, skeletal abnormalities syndrome
Como citar
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 16, p. 2134-2137, 2008.