• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Genetics >MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome
【24h】

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

机译：MOMO综合征与全脑性和隐睾症：扩大新肥胖症候群的范围。

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

摘要

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.
机译：肥胖症候群有多种遗传病，病因已知或未知。尽管涉及多系统并且通常具有特征性表现，但是仍缺乏对大多数这些综合征的遗传原因的理解。常见的肥胖症候群包括Bardet-Biedl，Prader-Willi，Alstrom，Albright的遗传性骨营养不良，Carpenter，Rubinstein-Taybi，Fragile X和Börjeson-Forssman-Lehman症候群。随着新的综合症被添加到列表中，该列表不断增加。最近新增的一种是MOMO综合征，文献中报道了约五种此类病例。扩大临床特征的范围，我们报道了印度的首例MOMO综合征病例，该病例具有大前脑性和隐睾症的大叶变体，以前没有报道。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
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