Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient


Autoria(s): Carvalho, Daniel Rocha de; Rossi, Natalia Freitas; Schellini, Silvana Artioli; Moretti-Ferreira, Danilo; Richieri-Costa, Antonio
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

20/05/2014

20/05/2014

15/08/2008

Resumo

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.

Formato

2134-2137

Identificador

http://dx.doi.org/10.1002/ajmg.a.32428

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

Idioma(s)

eng

Publicador

Wiley-liss

Relação

American Journal of Medical Genetics Part A

Direitos

closedAccess

Palavras-Chave #blepharophimosis #craniofacial abnormalities #skeletal abnormalities syndrome
Tipo

info:eu-repo/semantics/article