A journey towards answers: Bonnie Odgers Meets Dr. John Graham

Am J Med Genet A. 2021 Sep;185(9):2627-2629. doi: 10.1002/ajmg.a.62210. Epub 2021 Apr 21.

Abstract

The importance of understanding HIST1H1E Syndrome is sharing our family's personal journey to find a diagnosis for our daughter, Bonnie Odgers. This syndrome has also been referred to as Rahman Syndrome and HIST1H1E Neurodevelopmental Syndrome depending upon the origin of research. Characteristics of HIST1H1E are curved fingers, full cheeks, high forehead, speech impairments and mild to severe intellectual disability. This article reveals the Odgers' family journey towards a diagnosis, the key physicians research through whole exome genetic testing and revealing characteristics of HIST1H1E.

Keywords: DailyBonnie; HIST1H1E Neurodevelopmental Syndrome; HIST1H1E Syndrome; Rahman Syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Growth Disorders / pathology*
  • Humans
  • Intellectual Disability / pathology*
  • Neurodevelopmental Disorders / pathology*
  • Prognosis