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Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient

Authors

  • Daniel Rocha de Carvalho,

    1. Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil
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  • Natalia Freitas Rossi,

    1. Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil
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  • Silvana Schellini,

    1. Faculdade de Medicina de Botucatu, Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil
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  • Danilo Moretti-Ferreira,

    Corresponding author
    1. Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil
    • Serviço de Aconselhamento Genético/Departamento de Genética, Instituto de Biociências, Campus de Rubião Júnior s/n, UNESP, Botucatu, São Paulo 18618-000, Brazil.
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  • Antônio Richieri-Costa

    1. Serviço de Genética Clinica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil
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  • How to cite this article: Carvalho DR, Rossi NF, Schellini S, Moretti-Ferreira D, Richieri-Costa A. 2008. Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient. Am J Med Genet Part A 146A:2134–2137.

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. © 2008 Wiley-Liss, Inc.

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