Human Genetics & Embryology

Ken-ichi Yamamura

Publications

• Review Article
  Etiology of Caudal Regression Syndrome
  Author(s): Kei Semba and Ken-ichi YamamuraKei Semba and Ken-ichi Yamamura
  
  Caudal regression syndrome (CRS) is a rare congenital disorder in which lumbosacral anomalies are combined with anorectal and urogenital malformations. However, the molecular mechanisms of human CRS are not yet known. Trauma, nutritional problems, toxic agents, and genetics are suggested in the etiology of CRS. To the best of our knowledge, linkage studies of families affected exclusively by CRS or total sacral agenesis have not been conducted. In spite of the small number of familial cases reported, some specific genes have been shown to cause defined phenotypes. Environmental factors also may act as an enhancer in the etiology for CRS. There are several mutant mice that are considered as models for CRS, showing characteristic vertebral, anorectal, and urogenital abnormalities. Understanding the mechanisms for CRS development gives us valuable information to understand better what mu.. Read More»
  DOI: 10.4172/2161-0436.1000107

  Abstract PDF