Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
| 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 |
