Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review

Am J Med Genet A. 2010 Aug;152A(8):2057-60. doi: 10.1002/ajmg.a.33505.

Abstract

We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Genes, Dominant
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Humans
  • Infant, Newborn
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Scoliosis / genetics*
  • Scoliosis / pathology
  • Syndrome
  • Synostosis / genetics*
  • Synostosis / pathology