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Case Reports
. 2008 Aug 15;146A(16):2134-7.
doi: 10.1002/ajmg.a.32428.

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

Daniel Rocha de Carvalho  1 , Natalia Freitas Rossi, Silvana Schellini, Danilo Moretti-Ferreira, Antônio Richieri-Costa
Affiliations
Case Reports

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

Daniel Rocha de Carvalho et al. Am J Med Genet A. .

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.

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