一名巴西患者的施尔巴赫 - 罗特综合征/睑面骨骼综合征

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.

作者信息

de Carvalho Daniel Rocha, Rossi Natalia Freitas, Schellini Silvana, Moretti-Ferreira Danilo, Richieri-Costa Antônio

机构信息

Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil.

出版信息

Am J Med Genet A. 2008 Aug 15;146A(16):2134-7. doi: 10.1002/ajmg.a.32428.

DOI:10.1002/ajmg.a.32428

PMID:18627062

Abstract

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.

摘要

我们报告了一名4岁女童，她患有睑裂狭小症，这是睑裂面骨骼综合征（BFSS）中典型的面部形态和骨骼异常。与先前病例的比较性回顾进一步证明BFSS和席尔巴赫-罗特综合征（SRS）是同一种病症。