Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
|---|---|
| Data(s) |
19/10/2012
19/10/2012
2008
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| 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. |
| Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.146A, n.16, p.2134-2137, 2008 1552-4825 http://producao.usp.br/handle/BDPI/26927 10.1002/ajmg.a.32428 |
| Idioma(s) |
eng |
| Publicador |
WILEY-LISS |
| Relação |
American Journal of Medical Genetics Part A |
| Direitos |
restrictedAccess Copyright WILEY-LISS |
| Palavras-Chave | #blepharophimosis #craniofacial abnormalities #skeletal abnormalities syndrome #MENTAL-RETARDATION #CLEFT-PALATE #BLEPHAROPHIMOSIS #HYPOTELORISM #HYPOSPADIAS #Genetics & Heredity |
| Tipo |
article original article publishedVersion |
