Artículos de revistas
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
Fecha
2008Registro en:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.146A, n.16, p.2134-2137, 2008
1552-4825
10.1002/ajmg.a.32428
Autor
CARVALHO, Daniel Rocha de
ROSSI, Natalia Freitas
SCHELLINI, Silvana
MORETTI-FERREIRA, Danilo
RICHIERI-COSTA, Antonio
Institución
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.