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Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

Journal article published in 2008 by Daniel Rocha de Carvalho, Daniel Rocha de Carvalho, Natalia Freitas Rossi, Silvana Artioli Schellini, Danilo Moretti-Ferreira ORCID, Antonio Richieri-Costa
This paper is available in a repository.
This paper is available in a repository.

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Abstract

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.