...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum
【24h】

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

机译：Baraitser-Winter综合征：另一位埃及患者，患有骨骼异常，双侧虹膜和脉络膜结肠炎，视网膜发育不全和阴囊发育不良

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.
机译：我们报告了一个3.5岁的男孩，在非近亲埃及患有Baraitser-Winter综合征（BRWS）的出生顺序中排名第二。该患者患有虹膜和脉络膜的双侧结肠癌。我们的患者还患有视网膜发育不全，以前在该综合征中未见报道，双侧先天性上睑下垂，肥大，中度智力低下，身材矮小，脖子短，手关节过度伸直，滑石裂，后凸畸形和单侧发育不良的阴囊和睾丸。

著录项

相似文献

  • 外文文献
  • 中文文献
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号