Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

Artigo

Fecha

2008-08-15

Registro en:

American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 16, p. 2134-2137, 2008.

1552-4825

http://hdl.handle.net/11449/12631

10.1002/ajmg.a.32428

WOS:000258477100014

9420249100835492

0000-0002-9256-7623

http://repositorioslatinoamericanos.uchile.cl/handle/2250/3888435

Autor

Universidade Estadual Paulista (Unesp)

Universidade de São Paulo (USP)

Institución

Universidade Paulista Júlio de Mesquita Filho (Brasil)

Resumen

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.

Materias

blepharophimosis

craniofacial abnormalities

skeletal abnormalities syndrome

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